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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...PLoS genetics, 2019-05, Vol.15 (5), p.e1008143
2019
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Blood, 2011-12, Vol.118 (26), p.6943-6951
2011
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Hypertension (Dallas, Tex. 1979), 2022-01, Vol.79 (1), p.60-75
2022
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Genetics in medicine, 2012-01, Vol.14 (1), p.51-59
- Gahl, William A
- Markello, Thomas C
- Toro, Camilo
- Fajardo, Karin Fuentes
- Sincan, Murat
- Gill, Fred
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- Pierson, Tyler Mark
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- Wolfe, Lynne
- Groden, Catherine
- Godfrey, Rena
- Nehrebecky, Michele
- Wahl, Colleen
- Landis, Dennis M D
- Yang, Sandra
- Madeo, Anne
- Mullikin, James C
- Boerkoel, Cornelius F
- Tifft, Cynthia J
- Adams, David
2012
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Annals of neurology, 2018-11, Vol.84 (5), p.766-780
- Metz, Kyle A.
- Teng, Xinchen
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- Lamb, Heather M.
- Wagner, Bart E.
- Rosenfeld, Jill A.
- Chen, Xianghui
- Zhang, Yu
- Kim, Hee Jong
- Meadow, Michael E.
- Wang, Tim Sen
- Haberlandt, Edda D.
- Anderson, Glenn W.
- Leshinsky‐Silver, Esther
- Bi, Weimin
- Markello, Thomas C.
- Pratt, Marsha
- Makhseed, Nawal
- Garnica, Adolfo
- Danylchuk, Noelle R.
- Burrow, Thomas A.
- Jayakar, Parul
- McKnight, Dianalee
- Agadi, Satish
- Gbedawo, Hatha
- Stanley, Christine
- Alber, Michael
- Prehl, Isabelle
- Peariso, Katrina
- Ong, Min Tsui
- Mordekar, Santosh R.
- Parker, Michael J.
- Crooks, Daniel
- Agrawal, Pankaj B.
- Berry, Gerard T.
- Loddenkemper, Tobias
- Yang, Yaping
- Maegawa, Gustavo H. B.
- Aouacheria, Abdel
- Markle, Janet G.
- Wohlschlegel, James A.
- Hartman, Adam L.
- Hardwick, J. Marie
2018
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Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.161-170
- Adams, David R.
- Yuan, Hongjie
- Holyoak, Todd
- Arajs, Katrina H.
- Hakimi, Parvin
- Markello, Thomas C.
- Wolfe, Lynne A.
- Vilboux, Thierry
- Burton, Barbara K.
- Fajardo, Karin Fuentes
- Grahame, George
- Holloman, Conisha
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- Smith, Ann C.M.
- Wells, Gordon A.
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- Golas, Gretchen A.
- Tifft, Cynthia J.
- Boerkoel, Cornelius F.
- Hanson, Richard W.
- Traynelis, Stephen F.
- Kerr, Douglas S.
- Gahl, William A.
2014
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Journal of neurogenetics, 2021-04, Vol.35 (2), p.74-83
- Burke, Elizabeth A.
- Sturgeon, Morgan
- Zastrow, Diane B.
- Fernandez, Liliana
- Prybol, Cameron
- Marwaha, Shruti
- Frothingham, Edward P.
- Ward, Patricia A.
- Eng, Christine M.
- Fresard, Laure
- Montgomery, Stephen B.
- Enns, Gregory M.
- Fisher, Paul G.
- Wolfe, Lynne A.
- Harding, Brian
- Carrington, Blake
- Bishop, Kevin
- Sood, Raman
- Huang, Yan
- Elkahloun, Abdel
- Toro, Camilo
- Bassuk, Alexander G.
- Wheeler, Matthew T.
- Markello, Thomas C.
- Gahl, William A.
- Malicdan, May Christine V.
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American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1374-1380
2015
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Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome
2013
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Nature medicine, 2019-06, Vol.25 (6), p.911-919
- Frésard, Laure
- Smail, Craig
- Ferraro, Nicole M
- Teran, Nicole A
- Li, Xin
- Smith, Kevin S
- Bonner, Devon
- Kernohan, Kristin D
- Marwaha, Shruti
- Zappala, Zachary
- Balliu, Brunilda
- Davis, Joe R
- Liu, Boxiang
- Prybol, Cameron J
- Kohler, Jennefer N
- Zastrow, Diane B
- Reuter, Chloe M
- Fisk, Dianna G
- Grove, Megan E
- Davidson, Jean M
- Hartley, Taila
- Joshi, Ruchi
- Strober, Benjamin J
- Utiramerur, Sowmithri
- Lind, Lars
- Ingelsson, Erik
- Battle, Alexis
- Bejerano, Gill
- Bernstein, Jonathan A
- Ashley, Euan A
- Boycott, Kym M
- Merker, Jason D
- Wheeler, Matthew T
- Montgomery, Stephen B
2019
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The New England journal of medicine, 1993-04, Vol.328 (16), p.1157-1162
1993
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American journal of human genetics, 2019-01, Vol.104 (1), p.164-178
- Sullivan, Jennifer A.
- Shashi, Vandana
- Jiang, Yong-hui
- Stong, Nicholas
- Fiala, Elise
- Willing, Marcia
- Pfundt, Rolph
- Kleefstra, Tjitske
- Orellana, Carmen
- Monfort, Sandra
- Roscioli, Tony
- Jones, Wendy D.
- Sebastian, Jessica
- Sonal, Desai
- Sakkubai, Naidu
- Faivre, Laurence
- Krantz, Ian D.
- Adams, David R.
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Barseghyan, Hayk
- Batzli, Gabriel F.
- Beggs, Alan H.
- Bican, Anna
- Birch, Camille L.
- Bonner, Devon
- Boone, Braden E.
- Briere, Lauren C.
- Brown, Donna M.
- Brush, Matthew
- Chen, Shan
- Coakley, Terra R.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dillon, Ani
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Eskin, Ascia
- Friedman, Noah D.
- Glanton, Emily
- Godfrey, Rena A.
- Gould, Sarah E.
- Gropman, Andrea L.
- Hom, Jason
- Jacob, Howard J.
- Jain, Mahim
- Kohane, Isaac S.
- Krieg, Elizabeth L.
- Lau, C. Christopher
- Lazar, Jozef
- Lee, Brendan H.
- Lee, Hane
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martínez-Agosto, Julian A.
- Marwaha, Shruti
- May, Thomas
- McCray, Alexa T.
- Might, Matthew
- Mulvihill, John J.
- Murphy, Jennifer L.
- Nelson, Stan F.
- Newman, John H.
- Novacic, Donna
- Orange, Jordan S.
- Pallais, J. Carl
- Pena, Loren D.M.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Rosenfeld, Jill A.
- Sharma, Prashant
- Signer, Rebecca
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
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- Tran, Alyssa A.
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- Wahl, Colleen E.
- Waters, Katrina M.
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- Worthey, Elizabeth A.
- Yang, Yaping
- Zastrow, Diane B.
- Campeau, Philippe M.
2019
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American journal of human genetics, 2017-01, Vol.100 (1), p.128-137
- Davids, Mariska
- Pappas, John G.
- Rosenfeld, Jill A.
- McCarty, Alexandra J.
- Tifft, Cynthia
- Stong, Nicholas
- Johnson, Travis K.
- Warr, Coral G.
- Adams, Christopher J.
- Alejandro, Mercedes E.
- Ashley, Euan A.
- Barseghyan, Hayk
- Beggs, Alan H.
- Bernstein, Jonathan A.
- Briere, Lauren C.
- Brush, Matthew
- Cogan, Joy D.
- Craigen, William J.
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Eckstein, David J.
- Emrick, Lisa T.
- Eng, Christine M.
- Esteves, Cecilia
- Fisher, Paul G.
- Frisby, Trevor S.
- Frost, Kate
- Gahl, William A.
- Gartner, Valerie
- Golas, Gretchen A.
- Gould, Sarah E.
- Graham, Brett H.
- Groden, Catherine A.
- Gropman, Andrea L.
- Haendel, Melissa
- Hanchard, Neil A.
- Herzog, Matthew R.
- Jacob, Howard J.
- Jain, Mahim
- Jiang, Yong-hui
- Jones, Angela L.
- Koehler, Alanna E.
- Kohane, Isaac S.
- Krasnewich, Donna M.
- Krieg, Elizabeth L.
- Lau, C. Christopher
- Lazar, Jozef
- Lee, Brendan H.
- Levy, Denise J.
- Liebendorder, Adam P.
- Lincoln, Sharyn A.
- Loomis, Carson R.
- Loscalzo, Joseph
- Macnamara, Ellen F.
- MacRae, Calum A.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Mazur, Paul
- McCray, Alexa T.
- Metz, Thomas O.
- Moretti, Paolo M.
- Murphy, Jennifer L.
- Muzny, Donna M.
- Nehrebecky, Michele E.
- Pallais, J. Carl
- Palmer, Christina G.S.
- Pena, Loren D.M.
- Phillips, John A.
- Posey, Jennifer E.
- Potocki, Lorraine
- Pusey, Barbara N.
- Schoch, Kelly
- Scott, Daryl A.
- Sharma, Prashant
- Soldatos, Ariane G.
- Splinter, Kimberly
- Strong, Kimberly A.
- Sullivan, Jennifer A.
- Sweetser, David A.
- Thomas, Sara P.
- Tift, Cynthia J.
- Tolman, Nathanial J.
- Toro, Camilo
- Vilain, Eric
- Walley, Nicole M.
- Webb-Robertson, Bobbie-Jo M.
- Weech, Alec A.
- Westerfield, Monte
- Wheeler, Matt T.
- Yamamoto, Shinya
- Yang, Yaping
- Zornio, Patricia A.
2017
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Epilepsia (Copenhagen), 2019-03, Vol.60 (3), p.406-418
- Kelly, McKenna
- Park, Meredith
- Mihalek, Ivana
- Pérez‐Palma, Eduardo
- Anselm, Irina
- Briere, Lauren C.
- High, Frances A.
- Sweetser, David A.
- Allard, Patrick
- Ashley, Euan A.
- Bacino, Carlos A.
- Baker, Eva
- Barseghyan, Hayk
- Batzli, Gabriel F.
- Behnam, Babak
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bican, Anna
- Bostwick, Bret L.
- Brush, Matthew
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Butte, Manish J.
- Clark, Gary D.
- Colley, Heather A.
- Cooper, Cynthia M.
- Davids, Mariska
- Dell’Angelica, Esteban C.
- Dorrani, Naghmeh
- Douine, Emilie D.
- Emrick, Lisa T.
- Fairbrother, Laura
- Fernandez, Liliana
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Friedman, Noah D.
- Gahl, William A.
- Gourdine, Jean‐Philippe F.
- Groden, Catherine A.
- Gropman, Andrea L.
- Haendel, Melissa
- Hom, Jason
- Howerton, Ellen M.
- Jamal, Fariha
- Jiang, Yong‐hui
- Johnston, Jean M.
- Jones, Angela L.
- Karaviti, Lefkothea
- Koeller, David M.
- Kohane, Isaac S.
- Koziura, Mary
- Lalani, Seema R.
- Lazar, Jozef
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Maas, Richard L.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- Martínez‐Agosto, Julian A.
- May, Thomas
- Morimoto, Marie
- Mulvihill, John J.
- Murphy, Jennifer L.
- Nelson, Stan F.
- Newman, John H.
- Novacic, Donna
- Orange, Jordan S.
- Potocki, Lorraine
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Sampson, Jacinda B.
- Samson, Susan L.
- Schoch, Kelly
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Smith, Kevin S.
- Spillmann, Rebecca C.
- Stong, Nicholas
- Sullivan, Jennifer A.
- Waggott, Daryl M.
- Walsh, Chris A.
- Wangler, Michael F.
- Ward, Patricia A.
- Waters, Katrina M.
- Westerfield, Monte
- Wheeler, Matthew T.
- Wise, Anastasia L.
- Worthey, Elizabeth A.
- Yoon, Amanda J.
- Zastrow, Diane B.
2019
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American journal of human genetics, 2018-03, Vol.102 (3), p.494-504
- Yoon, Wan Hee
- Jangam, Sharayu
- Davidson, Jean M.
- Grove, Megan E.
- Kohler, Jennefer N.
- Holmes, Matthew
- Zhao, Chunli
- Contrepois, Kévin
- Heyman, Heino M.
- Webb-Robertson, Bobbie-Jo M.
- Alejandro, Mercedes E.
- Allard, Patrick
- Balasubramanyam, Ashok
- Barseghyan, Hayk
- Bican, Anna
- Birch, Camille L.
- Bostwick, Bret L.
- Briere, Lauren C.
- Brown, Donna M.
- Brush, Matthew
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dorset, Daniel C.
- Draper, David D.
- Eckstein, David J.
- Emrick, Lisa T.
- Esteves, Cecilia
- Estwick, Tyra
- Ferreira, Carlos
- Glanton, Emily
- Godfrey, Rena A.
- Goldstein, David B.
- Gould, Sarah E.
- Gourdine, Jean-Philippe F.
- Hanchard, Neil A.
- Herzog, Matthew R.
- Hom, Jason
- Howerton, Ellen M.
- Huang, Yong
- Jacob, Howard J.
- Jiang, Yong-hui
- Johnston, Jean M.
- Jones, Angela L.
- Kohane, Isaac S.
- Krier, Joel B.
- Lazar, Jozef
- Lee, Hane
- Levy, Shawn E.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Majcherska, Marta M.
- Mamounas, Laura A.
- Manolio, Teri A.
- Markello, Thomas C.
- Marom, Ronit
- May, Thomas
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Moretti, Paolo M.
- Novacic, Donna
- Orange, Jordan S.
- Palmer, Christina G.S.
- Potocki, Lorraine
- Pusey, Barbara N.
- Robertson, Amy K.
- Rodan, Lance H.
- Rosenfeld, Jill A.
- Samson, Susan L.
- Schoch, Kelly
- Schroeder, Molly C.
- Shashi, Vandana
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
- Stong, Nicholas
- Tifft, Cynthia J.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Ward, Patricia A.
- Yamamoto, Shinya
- Snyder, Michael
- Merker, Jason D.
- Fisher, Paul G.
- Mayr, Johannes A.
- Morris, Andrew A.
- Schelley, Susan
- Friederich, Marisa W.
- Wangler, Michael F.
- Taylor, Robert W.
- Bernstein, Jonathan A.
2018
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American journal of human genetics, 2020-04, Vol.106 (4), p.570-583
- Mao, Dongxue
- Reuter, Chloe M.
- Farrow, Emily G.
- Rosenfeld, Jill A.
- Mackenzie, Katherine M.
- Küry, Sébastien
- Genetti, Casie A.
- Alejandro, Mercedes
- Agrawal, Pankaj B.
- Alvey, Justin
- Ashley, Euan A.
- Balasubramanyam, Ashok
- Beck, Anita
- Bellen, Hugo J.
- Berg-Rood, Beverly
- Bernier, Raphael
- Bivona, Stephanie
- Bohnsack, John
- Briere, Lauren C.
- Burke, Elizabeth A.
- Butte, Manish J.
- Carrasquillo, Olveen
- Cogan, Joy D.
- Cole, F. Sessions
- Colley, Heather A.
- Cooper, Cynthia M.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Estwick, Tyra
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Hahn, Sihoun
- Hanchard, Neil A.
- Hing, Anne
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Karaviti, Lefkothea
- Kelley, Emily G.
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Krakow, Deborah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lam, Byron
- Lanpher, Brendan C.
- Lanza, Ian R.
- Lee, Brendan H.
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McCormack, Colleen E.
- Merritt, J. Lawrence
- Moretti, Paolo M.
- Mulvihill, John J.
- Murdock, David R.
- Nickerson, Deborah
- Pallais, J. Carl
- Posey, Jennifer E.
- Potocki, Lorraine
- Raja, Archana N.
- Renteria, Genecee
- Samson, Susan L.
- Schedl, Timothy
- Shakachite, Lisa
- Signer, Rebecca
- Silverman, Edwin K.
- Sybert, Virginia
- Tekin, Mustafa
- Thorson, Willa
- Tran, Alyssa A.
- Urv, Tiina K.
- Wahl, Colleen E.
- Wegner, Daniel
- Wheeler, Matthew T.
- Yamamoto, Shinya
- Yang, John
- Yoon, Amanda J.
- Yu, Guoyun
- Zastrow, Diane B.
- Zhao, Chunli
- Bernstein, Jonathan A.
- Chao, Hsiao-Tuan
2020
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American journal of human genetics, 2016-10, Vol.99 (4), p.991-999
- Pena, Loren D.M.
- Hempel, Maja
- McLaughlin, Heather M.
- Cho, Megan
- Stong, Nicholas
- Shuss, Christine M.
- Burrage, Lindsay C.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Graham, Brett H.
- Lalani, Seema R.
- Lewis, Richard A.
- Posey, Jennifer E.
- Hanchard, Neil A.
- Mercedes, Alejandro E.
- Wangler, Michael F.
- Muzny, Donna M.
- Ward, Patricia A.
- Ramoni, Rachel B.
- McCray, Alexa T.
- Mazur, Paul
- Splinter, Kimberly
- Esteves, Cecilia
- Jiang, Yong-hui
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Spillmann, Rebecca C.
- Goldstein, David B.
- Loscalzo, Joseph
- Rodan, Lance H.
- Walsh, Chris A.
- Cooper, Cynthia M.
- Donnell-Fink, Laurel A.
- Krieg, Elizabeth L.
- Lincoln, Sharyn A.
- Worthey, Elizabeth A.
- Lazar, Joe
- Handley, Lori H.
- Newberry, J. Scott
- Schroeder, Molly C.
- Brown, Donna M.
- Levy, Shawn E.
- Dorset, Dan C.
- Jones, Angela L.
- Manolio, Teri A.
- Wise, Anastasia L.
- Eckstein, David J.
- Krasnewich, Donna M.
- Loomis, Carson R.
- Iglesias, Brenda
- Martin, Casey
- Koeller, David M.
- Ashley, Euan A.
- Zornio, Patricia A.
- Nelson, Stan F.
- Palmer, Christina G.S.
- Allard, Patrick
- Dell Angelica, Esteban C.
- Lee, Hane
- Papp, Jeanette C.
- Dorrani, Naghmeh
- Draper, David D.
- Estwick, Tyra
- Gahl, William A.
- Gartner, Valerie
- Godfrey, Rena A.
- Goheen, Mitchell
- Johnston, Jean M.
- Latham, Lea
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Malicdan, May V.
- McCarty, Alexandra J.
- Murphy, Jennifer L.
- Novacic, Donna
- Pusey, Barbara N.
- Sadozai, Sarah
- Schaffer, Katherine E.
- Sharma, Prashant
- Soldatos, Ariane G.
- Tifft, Cynthia J.
- Tolman, Nathanial J.
- Toro, Camilo
- Wahl, Colleen E.
- Weech, Alec A.
- Yu, Guoyun
- Hamid, Rizwan
- Bellet, Jane S.
- Keels, Martha Ann
- El-Dairi, Maysantoine
- Stumpel, Constance T.R.M.
- Klinkenberg, Sylvia
- Oberndorff, Karin
- Petrovski, Slavé
- Kuismin, Outi
- Korpi-Heikkilä, Satu
- Kurki, Mitja I.
- Hoischen, Alexander
2016
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American journal of human genetics, 2019-03, Vol.104 (3), p.422-438
- Phillips, Jennifer B.
- Lanza, Denise G.
- Jain, Mahim
- Raman, Vandana
- Chitayat, David
- Chinn, Ivan K.
- Bertuch, Alison A.
- Bamshad, Michael
- Savarirayan, Ravi
- Doddapaneni, Harsha
- Muzny, Donna
- Gibbs, Richard A.
- Rosenfeld, Jill A.
- Postlethwait, John
- Beaudet, Arthur L.
- Ranza, Emmanuelle
- Cormier-Daire, Valérie
- Orange, Jordan S.
- Allard, Patrick
- Barseghyan, Hayk
- Batzli, Gabriel F.
- Beggs, Alan H.
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bick, David P.
- Briere, Lauren C.
- Brokamp, Elly
- Brush, Matthew
- Coakley, Terra R.
- Cope, Heidi
- Davidson, Jean M.
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Dipple, Katrina M.
- Dorrani, Naghmeh
- Duncan, Laura
- Emrick, Lisa T.
- Eng, Christine M.
- Enns, Gregory M.
- Fisher, Paul G.
- Friedman, Noah D.
- Gahl, William A.
- Glanton, Emily
- Goldman, Alica M.
- Gourdine, Jean-Philippe F.
- Groden, Catherine A.
- Haendel, Melissa
- Hamid, Rizwan
- High, Frances
- Huang, Yong
- Karaviti, Lefkothea
- Kohler, Jennefer N.
- Krasnewich, Donna M.
- Korrick, Susan
- Krier, Joel B.
- Kyle, Jennifer E.
- Lau, C. Christopher
- Lee, Hane
- Loo, Sandra K.
- Loscalzo, Joseph
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Marwaha, Shruti
- McCormack, Colleen E.
- McCray, Alexa T.
- Metz, Thomas O.
- Murdock, David R.
- Newberry, J. Scott
- Nicholas, Sarah K.
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Phillips, John A.
- Posey, Jennifer E.
- Pusey, Barbara N.
- Sampson, Jacinda B.
- Shakachite, Lisa
- Signer, Rebecca
- Silverman, Edwin K.
- Spillmann, Rebecca C.
- Stoler, Joan M.
- Stong, Nicholas
- Sweetser, David A.
- Tan, Queenie K.-G.
- Tran, Alyssa A.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Wangler, Michael F.
- Waters, Katrina M.
- Westerfield, Monte
- Wise, Anastasia L.
- Yang, John
- Yang, Yaping
- Yoon, Amanda J.
- Zastrow, Diane B.
- Zhao, Chunli
- Offiah, Amaka C.
- Carey, John C.
- Bacino, Carlos A.
- Campeau, Philippe M.
- Lee, Brendan
2019
Volltextzugriff (PDF)
Genetics in medicine, 2018-04, Vol.20 (4), p.464-469
- Pena, Loren D M
- Jiang, Yong-Hui
- Schoch, Kelly
- Spillmann, Rebecca C
- Walley, Nicole
- Stong, Nicholas
- Rapisardo Horn, Sarah
- Sullivan, Jennifer A
- McConkie-Rosell, Allyn
- Kansagra, Sujay
- Smith, Edward C
- El-Dairi, Mays
- Bellet, Jane
- Keels, Martha Ann
- Jasien, Joan
- Kranz, Peter G
- Noel, Richard
- Nagaraj, Shashi K
- Lark, Robert K
- Wechsler, Daniel S G
- Del Gaudio, Daniela
- Leung, Marco L
- Hendon, Laura G
- Parker, Collette C
- Jones, Kelly L
- Goldstein, David B
- Shashi, Vandana
2018
Volltextzugriff (PDF)
American journal of human genetics, 2017-02, Vol.100 (2), p.343-351
- Schoch, Kelly
- Meng, Linyan
- Szelinger, Szabolcs
- Liston, Eriskay
- Scaglia, Fernando
- Rosenfeld, Jill A.
- Deardorff, Matthew A.
- Akdemir, Zeynep Coban
- Jasien, Joan
- Kansagra, Sujay
- Freedman, Sharon
- Bale, Sherri
- Nelson, Stanley F.
- Lee, Hane
- Dorrani, Naghmeh
- Vilain, Eric
- Kantarci, Sibel
- Mullegama, Sureni
- Kang, Sung-Hae
- Bacino, Carlos A.
- Balasubramanyam, Ashok
- Craigen, William J.
- Dhar, Shweta U.
- Hanchard, Neil A.
- Lee, Brendan H.
- Lewis, Richard A.
- Moretti, Paolo M.
- Orange, Jordan S.
- Potocki, Lorraine
- Wangler, Michael F.
- Yamamoto, Shinya
- Muzny, Donna M.
- Yang, Yaping
- Gropman, Andrea L.
- Goldstein, David B.
- Walley, Nicole M.
- Beggs, Alan H.
- Krier, Joel B.
- Loscalzo, Joseph
- Walsh, Chris A.
- Esteves, Cecilia
- Holm, Ingrid A.
- Kohane, Isaac S.
- Mazur, Paul
- McCray, Alexa T.
- Might, Matthew
- Splinter, Kimberly
- Brown, Donna M.
- Dorset, Dan C.
- Jones, Angela L.
- Lazar, Jozef
- Newberry, J. Scott
- Schroeder, Molly C.
- Strong, Kimberly A.
- Dayal, Jyoti G.
- Loomis, Carson R.
- Mulvihill, John J.
- Wise, Anastasia L.
- Haendel, Melissa
- Kyle, Jennifer E.
- Webb-Robertson, Bobbie-Jo M.
- Kohler, Jennefer N.
- Herzog, Matthew R.
- Nelson, Stan F.
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Adams, Christopher J.
- Burke, Elizabeth A.
- Chao, Katherine R.
- Davids, Mariska
- Frost, Kate
- Gartner, Valerie
- Gordon, Mary “Gracie” G.
- Groden, Catherine A.
- Hardee, Isabel
- Johnston, Jean M.
- Latham, Lea
- Lau, C. Christopher
- Maduro, Valerie V.
- Pusey, Barbara N.
- Sadozai, Sarah
- Schaffer, Katherine E.
- Sharma, Prashant
- Thomas, Sara P.
- Valivullah, Zaheer M.
- Wahl, Colleen E.
- Weech, Alec A.
- Westerfield, Monte
- Bican, Anna
- Phillips, John A.
- Robertson, Amy K.
- Xiao, Rui
- Posey, Jennifer E.
- Shashi, Vandana
2017
Volltextzugriff (PDF)
Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-6, Article 6
2023
Volltextzugriff (PDF)
Scientific data, 2021-04, Vol.8 (1), p.114-114, Article 114
2021
Volltextzugriff (PDF)
Molecular genetics & genomic medicine, 2021-07, Vol.9 (7), p.e1665-n/a
- Cope, Heidi
- Hoppman, Nicole
- Rehder, Catherine
- Alkelai, Anna
- Vilain, Eric
- Shashi, Vandana
- Acosta, Maria T
- Adams, David R
- Amendola, Laura
- Andrews, Ashley
- Bacino, Carlos A.
- Baker, Eva
- Beggs, Alan H.
- Behrens, Edward
- Bejerano, Gill
- Bernstein, Jonathan A.
- Bonner, Devon
- Brokamp, Elly
- Brown, Gabrielle
- Carrasquillo, Olveen
- Chao, Hsiao‐Tuan
- Cobban, Laurel A.
- Cogan, Joy D.
- Crouse, Andrew B.
- Cunningham, Michael
- Dasari, Surendra
- Davis, Joie
- Dayal, Jyoti G.
- Deardorff, Matthew
- Douine, Emilie D.
- Draper, David D.
- Fieg, Elizabeth L.
- Findley, Laurie C.
- Fogel, Brent L.
- Fresard, Laure
- Golden‐Grant, Katie
- Goldrich, Madison P
- Grajewski, Alana
- High, Frances
- Hisama, Fuki M.
- Holm, Ingrid A.
- Isasi, Rosario
- Jarvik, Gail P.
- Jayadev, Suman
- Karaviti, Lefkothea
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Kravets, Elijah
- Lam, Byron
- Lam, Christina
- Lee, Hane
- Levitt, Roy
- Liu, Pengfei
- Longo, Nicola
- Majcherska, Marta M.
- Manolio, Teri A.
- Mao, Rong
- Martínez‐Agosto, Julian A.
- Marwaha, Shruti
- McCauley, Jacob
- McCray, Alexa T.
- McGee, Elisabeth
- Mefford, Heather
- Mirzaa, Ghayda
- Mosbrook‐Davis, Deborah
- Newman, John H
- Nickerson, Deborah
- Nieves‐Rodriguez, Shirley
- Orengo, James P.
- Parker, Neil H.
- Phillips, John A.
- Posey, Jennifer E.
- Potocki, Lorraine
- Raskind, Wendy
- Raja, Archana N.
- Rosenfeld, Jill A.
- Sacco, Ralph
- Sampson, Jacinda B.
- Saporta, Mario
- Schaechter, Judy
- Schoch, Kelly
- Signer, Rebecca
- Sisco, Kathy
- Smith, Edward C.
- Spillmann, Rebecca C.
- Sullivan, Kathleen
- Tabor, Holly K.
- Tifft, Cynthia J.
- Tucker, Brianna M.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Walsh, Chris A.
- Walker, Melissa
- Wan, Jijun
- Wangler, Michael F.
- Wener, Mark
- Wheeler, Matthew T.
- Whitlock, Jordan
- Yang, John
- Zhao, Chunli
2021
Volltextzugriff (PDF)
Molecular genetics & genomic medicine, 2020-12, Vol.8 (12), p.e1544-n/a
- Macnamara, Ellen F.
- D'Souza, Precilla
- Vezina, Gilbert
- Tifft, Cynthia J.
- Adams, David R.
- Azamian, Mahshid S.
- Baldridge, Dustin
- Bayrak‐Toydemir, Pinar
- Beck, Anita
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byrd, William E.
- Carey, John
- Craigen, William J.
- Cunningham, Michael
- Dayal, Jyoti G.
- Deardorff, Matthew
- Doherty, Daniel
- Dorrani, Naghmeh
- Douine, Emilie D.
- Earl, Dawn
- Eckstein, David J.
- Emrick, Lisa T.
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Forghani, Irman
- Fresard, Laure
- Gahl, William A.
- Glass, Ian
- Goldman, Alica M.
- Goldstein, David B.
- Groden, Catherine A.
- Hassey, Kelly
- Horike‐Pyne, Martha
- Huang, Alden
- Huang, Yong
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Johnston, Jean M.
- Kohane, Isaac S.
- Krakow, Deborah
- Kravets, Elijah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lalani, Seema R.
- Lam, Christina
- Lanpher, Brendan C.
- Lincoln, Sharyn A.
- Loo, Sandra K.
- Loscalzo, Joseph
- MacRae, Calum A.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martin, Martin G.
- McCormack, Colleen E.
- McGee, Elisabeth
- Merritt, J. Lawrence
- Might, Matthew
- Mulvihill, John J.
- Nelson, Stan F.
- Nicholas, Sarah K.
- Orengo, James P.
- Pace, Laura
- Pak, Stephen
- Pusey, Barbara N.
- Quinlan, Aaron
- Raskind, Wendy
- Sacco, Ralph
- Saporta, Mario
- Ron Scott, C.
- Schaechter, Judy
- Schoch, Kelly
- Sharma, Prashant
- Shin, Jimann
- Sillari, Catherine H.
- Sisco, Kathy
- Smith, Kevin S.
- Stoler, Joan M.
- Stong, Nicholas
- Tamburro, Cecelia P.
- Tekin, Mustafa
- Toro, Camilo
- Tucker, Brianna M.
- Vogel, Tiphanie P.
- Wambach, Jennifer
- Wang, Lee‐kai
- Wegner, Daniel
- Wenger, Tara
- Wesseling Perry, Katherine
- Westerfield, Monte
- Wolfe, Lynne A.
- Zuchner, Stephan
2020
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The New England journal of medicine, 1990-08, Vol.323 (9), p.565-570
1990
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