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Molecular medicine (Cambridge, Mass.), 2012-01, Vol.18 (1), p.56-64
2012
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Molecular genetics and metabolism, 2015-06, Vol.115 (2-3), p.128-140
- Lam, Christina
- Golas, Gretchen A.
- Davids, Mariska
- Huizing, Marjan
- Kane, Megan S.
- Krasnewich, Donna M.
- Malicdan, May Christine V.
- Adams, David R.
- Markello, Thomas C.
- Zein, Wadih M.
- Gropman, Andrea L.
- Lodish, Maya B.
- Stratakis, Constantine A.
- Maric, Irina
- Rosenzweig, Sergio D.
- Baker, Eva H.
- Ferreira, Carlos R.
- Danylchuk, Noelle R.
- Kahler, Stephen
- Garnica, Adolfo D.
- Bradley Schaefer, G.
- Boerkoel, Cornelius F.
- Gahl, William A.
- Wolfe, Lynne A.
2015
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Frontiers in medicine, 2017-05, Vol.4, p.62-62
- Gall, Timothy
- Valkanas, Elise
- Bello, Christofer
- Markello, Thomas
- Adams, Christopher
- Bone, William P
- Brandt, Alexander J
- Brazill, Jennifer M
- Carmichael, Lynn
- Davids, Mariska
- Davis, Joie
- Diaz-Perez, Zoraida
- Draper, David
- Elson, Jeremy
- Flynn, Elise D
- Godfrey, Rena
- Groden, Catherine
- Hsieh, Cheng-Kang
- Fischer, Roxanne
- Golas, Gretchen A
- Guzman, Jessica
- Huang, Yan
- Kane, Megan S
- Lee, Elizabeth
- Li, Chong
- Links, Amanda E
- Maduro, Valerie
- Malicdan, May Christine V
- Malik, Fayeza S
- Nehrebecky, Michele
- Park, Joun
- Pemberton, Paul
- Schaffer, Katherine
- Simeonov, Dimitre
- Sincan, Murat
- Smedley, Damian
- Valivullah, Zaheer
- Wahl, Colleen
- Washington, Nicole
- Wolfe, Lynne A
- Xu, Karen
- Zhu, Yi
- Gahl, William A
- Tifft, Cynthia J
- Toro, Camillo
- Adams, David R
- He, Miao
- Robinson, Peter N
- Haendel, Melissa A
- Zhai, R Grace
- Boerkoel, Cornelius F
2017
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Neurology, 2016-04, Vol.86 (14), p.1320
2016
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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
- Sincan, Murat
- Smith, Ann C.M.
- Wells, Gordon A.
- Huang, Yan
- Vega, Hugo
- Snyder, James P.
- 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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American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1374-1380
2015
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American journal of human genetics, 2017-06, Vol.100 (6), p.843-853
- Wan, Ying-Wooi
- Wangler, Michael F.
- Yamamoto, Shinya
- Chao, Hsiao-Tuan
- Mohr, Stephanie E.
- Adams, Christopher J.
- Allard, Patrick
- Azamian, Mashid S.
- Bacino, Carlos A.
- Balasubramanyam, Ashok
- Barseghyan, Hayk
- Beggs, Alan H.
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Birch, Camille L.
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Chao, Katherine R.
- Clark, Gary D.
- Cogan, Joy D.
- Cooper, Cynthia M.
- Craigen, William J.
- Dell’Angelica, Esteban C.
- Donnell-Fink, Laurel A.
- Draper, David D.
- Dries, Annika M.
- Emrick, Lisa T.
- Goheen, Mitchell
- Golas, Gretchen A.
- Goldstein, David B.
- Gordon, Mary G.
- Gourdine, Jean-Philippe F.
- Graham, Brett H.
- Groden, Catherine A.
- Hackbarth, Mary E.
- Hamid, Rizwan
- Hardee, Isabel
- Holm, Ingrid A.
- Howerton, Ellen M.
- Jacob, Howard J.
- Johnston, Jean M.
- Koeller, David M.
- Kohler, Jennefer N.
- Krier, Joel B.
- Kyle, Jennifer E.
- Lalani, Seema R.
- Latham, Lea
- Latour, Yvonne L.
- Lee, Paul R.
- Levy, Shawn E.
- Liebendorfer, Adam P.
- Loomis, Carson R.
- Maas, Richard L.
- MacRae, Calum A.
- Manolio, Teri A.
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Moretti, Paolo M.
- Mulvihill, John J.
- Murphy, Jennifer L.
- Muzny, Donna M.
- Nehrebecky, Michele E.
- Newberry, J. Scott
- Nicholas, Sarah K.
- Novacic, Donna
- Orange, Jordan S.
- Pena, Loren D.M.
- Posey, Jennifer E.
- Potocki, Lorraine
- Ramoni, Rachel B.
- Robertson, Amy K.
- Rodan, Lance H.
- Schoch, Kelly
- Scott, Daryl A.
- Sharma, Prashant
- Silverman, Edwin K.
- Soldatos, Ariane G.
- Splinter, Kimberly
- Stoler, Joan M.
- Strong, Kimberly A.
- Sullivan, Jennifer A.
- Sweetser, David A.
- Thomas, Sara P.
- Tifft, Cynthia J.
- Tolman, Nathanial J.
- Toro, Camilo
- Tran, Alyssa A.
- Vilain, Eric
- Wahl, Colleen E.
- Walley, Nicole M.
- Webb-Robertson, Bobbie-Jo M.
- Weech, Alec A.
- Westerfield, Monte
- Wolfe, Lynne A.
- Yang, Yaping
- Zornio, Patricia A.
- Perrimon, Norbert
2017
Link zum Volltext
American journal of human genetics, 2017-02, Vol.100 (2), p.185-192
- Ramoni, Rachel B.
- Mulvihill, John J.
- Adams, David R.
- Allard, Patrick
- Ashley, Euan A.
- Gahl, William A.
- Loscalzo, Joseph
- Adams, Christopher J.
- Alejandro, Mercedes E.
- Azamian, Mashid S.
- Balasubramanyam, Ashok
- Beggs, Alan H.
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bick, David P.
- Birch, Camille L.
- Boone, Braden E.
- Briere, Lauren C.
- Brush, Matthew
- Cogan, Joy D.
- Craigen, William J.
- Davids, Mariska
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Dipple, Katrina M.
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Eckstein, David J.
- Estwick, Tyra
- Godfrey, Rena A.
- Goheen, Mitchell
- Goldstein, David B.
- Gordon, Mary “Gracie” G.
- Gourdine, Jean-Philippe F.
- Haendel, Melissa
- Hamid, Rizwan
- Handley, Lori H.
- Hardee, Isabel
- Holm, Ingrid A.
- Howerton, Ellen M.
- Jacob, Howard J.
- Jones, Angela L.
- Koehler, Alanna E.
- Kohler, Jennefer N.
- Krasnewich, Donna M.
- Kyle, Jennifer E.
- Latham, Lea
- Lau, C. Christopher
- Lazar, Jozef
- Lee, Hane
- Lee, Paul R.
- Levy, Shawn E.
- Levy, Denise J.
- Lewis, Richard A.
- Liebendorder, Adam P.
- Loomis, Carson R.
- Maas, Richard L.
- MacRae, Calum A.
- Manolio, Teri A.
- Markello, Thomas C.
- Mazur, Paul
- McConkie-Rosell, Allyn
- Metz, Thomas O.
- Might, Matthew
- Moretti, Paolo M.
- Murphy, Jennifer L.
- Muzny, Donna M.
- Nehrebecky, Michele E.
- Nelson, Stan F.
- Newman, John H.
- Nicholas, Sarah K.
- Palmer, Christina G.S.
- Phillips, John A.
- Postlethwait, John H.
- Rosenfeld, Jill A.
- Schaffer, Katherine E.
- Schroeder, Molly C.
- Scott, Daryl A.
- Shashi, Vandana
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Spillmann, Rebecca C.
- Stoler, Joan M.
- Stong, Nicholas
- Sullivan, Jennifer A.
- Tolman, Nathanial J.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Waggott, Daryl M.
- Walsh, Chris A.
- Wangler, Michael F.
- Warburton, Mike
- Ward, Patricia A.
- Waters, Katrina M.
- Wheeler, Matthew T.
- Yu, Guoyun
- Wise, Anastasia L.
2017
Link zum Volltext
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
Link zum Volltext
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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Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.71-71, Article 71
2017
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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
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- Noel, Richard
- Nagaraj, Shashi K
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- Leung, Marco L
- Hendon, Laura G
- Parker, Collette C
- Jones, Kelly L
- Goldstein, David B
- Shashi, Vandana
2018
Link zum Volltext
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
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- 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.
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- 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
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Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S103-S104
2014
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Research in nursing & health, 1986-09, Vol.9 (3), p.209-214
1986
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The New England journal of medicine, 2011-08, Vol.365 (7), p.611-619
- Lindhurst, Marjorie J
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Clinical journal of the American Society of Nephrology, 2013-04, Vol.8 (4), p.649-657
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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
- Carlson-Donohoe, Hannah
- Gropman, Andrea
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- Groden, Catherine
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2012
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American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.103-115
2016
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Nature communications, 2014-01, Vol.5 (1), p.3251-3251, Article 3251
2014
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European journal of pediatrics, 2016-05, Vol.175 (5), p.727-733
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American journal of human genetics, 2015-04, Vol.96 (4), p.675-681
- Simons, Cas
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- Helman, Guy
- Golas, Gretchen
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PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325
- Pierson, Tyler Mark
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Human mutation, 2017-10, Vol.38 (10), p.1412-1420
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Human molecular genetics, 2014-01, Vol.23 (2), p.397-407
- Lim, Young H
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2014
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