Sortiert nach
Annual review of medicine, 2023-01, Vol.74, p.489
2023
Volltextzugriff (PDF)
Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.71-71, Article 71
2017
Volltextzugriff (PDF)
Annals of neurology, 2015-12, Vol.78 (6), p.995-999
2015
Volltextzugriff (PDF)
Genetics in medicine, 2015-10, Vol.17 (10), p.774-781
- Zhu, Xiaolin
- Petrovski, Slavé
- Xie, Pingxing
- Ruzzo, Elizabeth K
- Lu, Yi-Fan
- McSweeney, K Melodi
- Ben-Zeev, Bruria
- Nissenkorn, Andreea
- Anikster, Yair
- Oz-Levi, Danit
- Dhindsa, Ryan S
- Hitomi, Yuki
- Schoch, Kelly
- Spillmann, Rebecca C
- Heimer, Gali
- Marek-Yagel, Dina
- Tzadok, Michal
- Han, Yujun
- Worley, Gordon
- Goldstein, Jennifer
- Jiang, Yong-Hui
- Lancet, Doron
- Pras, Elon
- Shashi, Vandana
- McHale, Duncan
- Need, Anna C
- Goldstein, David B
2015
Volltextzugriff (PDF)
Epilepsia (Copenhagen), 2017-03, Vol.58 (3), p.436-445
- Mulkey, Sarah B.
- Ben‐Zeev, Bruria
- Nicolai, Joost
- Carroll, John L.
- Grønborg, Sabine
- Jiang, Yong‐hui
- Joshi, Nishtha
- Kelly, Megan
- Koolen, David. A.
- Mikati, Mohamad A.
- Park, Kristen
- Pearl, Phillip L.
- Scheffer, Ingrid E.
- Spillmann, Rebecca C.
- Taglialatela, Maurizio
- Vieker, Silvia
- Weckhuysen, Sarah
- Cooper, Edward C.
- Cilio, Maria Roberta
2017
Volltextzugriff (PDF)
Journal of genetic counseling, 2023-10, Vol.32 (5), p.993-1008
2023
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1053-1065
2020
Volltextzugriff (PDF)
Clinical genetics, 2024-01, Vol.105 (1), p.62-71
2024
Volltextzugriff (PDF)
Journal of genetic counseling, 2018-08, Vol.27 (4), p.935-946
2018
Volltextzugriff (PDF)
Genetics in Medicine Open, 2023, Vol.1 (1), p.100343, Article 100343
2023
Volltextzugriff (PDF)
Journal of genetic counseling, 2018-09, Vol.27 (5), p.1087-1101
2018
Volltextzugriff (PDF)
Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1397-n/a
- Cope, Heidi
- Spillmann, Rebecca
- Rosenfeld, Jill A.
- Brokamp, Elly
- Signer, Rebecca
- Schoch, Kelly
- Kelley, Emily G.
- Sullivan, Jennifer A.
- Macnamara, Ellen
- Lincoln, Sharyn
- Golden‐Grant, Katie
- Orengo, James P.
- Clark, Gary
- Burrage, Lindsay C.
- Posey, Jennifer E.
- Punetha, Jaya
- Robertson, Amy
- Cogan, Joy
- Phillips, John A.
- Martinez‐Agosto, Julian
- Shashi, Vandana
2020
Volltextzugriff (PDF)
Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a003046
2018
Volltextzugriff (PDF)
Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1321-1332
- Johnstone, Devon L.
- Nguyen, Thi Tuyet Mai
- Zambonin, Jessica
- Kernohan, Kristin D.
- St‐Denis, Anik
- Baratang, Nissan V.
- Hartley, Taila
- Geraghty, Michael T.
- Richer, Julie
- Majewski, Jacek
- Bareke, Eric
- Guerin, Andrea
- Pendziwiat, Manuela
- Pena, Loren D. M.
- Braakman, Hilde M. H.
- Gripp, Karen W.
- Edmondson, Andrew C.
- He, Miao
- Spillmann, Rebecca C.
- Eklund, Erik A.
- Bayat, Allan
- McMillan, Hugh J.
- Boycott, Kym M.
- Campeau, Philippe M.
2020
Volltextzugriff (PDF)
Pediatric research, 2023-10, Vol.94 (4), p.1523-1529
2023
Volltextzugriff (PDF)
American journal of human genetics, 2018-08, Vol.103 (2), p.245-260
- Marcogliese, Paul C.
- Rosenfeld, Jill A.
- Koenig, Mary Kay
- Chen, Agnes H.
- Dickson, Patricia I.
- Vera, Moin U.
- Salamon, Noriko
- Infante, Elena
- Poppe, Bruce
- Chung, Hyung-Lok
- Zuo, Zhongyuan
- Kanca, Oguz
- Xia, Fan
- Smith, Edward C.
- Jasien, Joan
- Kansagra, Sujay
- Lark, Robert
- Riley, Kacie
- Golden-Grant, Katie
- Terryn, Wim
- Adams, David R.
- Allard, Patrick
- Bacino, Carlos A.
- Bick, David P.
- Bostwick, Bret L.
- Brush, Matthew
- Burrage, Lindsay C.
- Clark, Gary D.
- Cooper, Cynthia M.
- D’Souza, Precilla
- Davids, Mariska
- Dell’Angelica, Esteban C.
- Dhar, Shweta U.
- Dillon, Ani
- Dorrani, Naghmeh
- Dorset, Daniel C.
- Esteves, Cecilia
- Fogel, Brent L.
- Gahl, William A.
- Gourdine, Jean-Philippe F.
- Haendel, Melissa
- Hamid, Rizwan
- Hanchard, Neil A.
- Howerton, Ellen M.
- Jiang, Yong-hui
- Johnston, Jean M.
- Krier, Joel B.
- Lalani, Seema R.
- Lau, C. Christopher
- Lee, Brendan H.
- Levy, Shawn E.
- Lewis, Richard A.
- Lipson, Allen
- Loo, Sandra K.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Manolio, Teri A.
- Martínez-Agosto, Julian A.
- McConkie-Rosell, Allyn
- McCormack, Colleen E.
- Morimoto, Marie
- Mulvihill, John J.
- Muzny, Donna M.
- Nelson, Stan F.
- Newberry, J. Scott
- Nicholas, Sarah K.
- Pallais, J. Carl
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Parker, Neil H.
- Phillips, John A.
- Posey, Jennifer E.
- Postlethwait, John H.
- Potocki, Lorraine
- Robertson, Amy K.
- Sampson, Jacinda B.
- Schoch, Kelly
- Shashi, Vandana
- Smith, Kevin S.
- Splinter, Kimberly
- Stoler, Joan M.
- Sweetser, David A.
- Toro, Camilo
- Urv, Tiina K.
- Vilain, Eric
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walley, Nicole M.
- Walsh, Chris A.
- Waters, Katrina M.
- Westerfield, Monte
- Yu, Guoyun
- Zheng, Allison
- Yamamoto, Shinya
- Wangler, Michael F.
- Lee, Brendan
- Nelson, Stanley F.
- Goldstein, David B.
- Bellen, Hugo J.
2018
Volltextzugriff (PDF)
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.
- Splinter, Kimberly
- Stoler, Joan M.
- Sweetser, David A.
- Tran, Alyssa A.
- Valivullah, Zaheer M.
- Wahl, Colleen E.
- Waters, Katrina M.
- Westerfield, Monte
- Wise, Anastasia L.
- Worthey, Elizabeth A.
- Yang, Yaping
- Zastrow, Diane B.
- Campeau, Philippe M.
2019
Volltextzugriff (PDF)
Nature genetics, 2021-07, Vol.53 (7), p.1006-1021
- Cousin, Margot A
- Creighton, Blake A
- Breau, Keith A
- Spillmann, Rebecca C
- Torti, Erin
- Dontu, Sruthi
- Tripathi, Swarnendu
- Ajit, Deepa
- Edwards, Reginald J
- Afriyie, Simone
- Bay, Julia C
- Harper, Kathryn M
- Beltran, Alvaro A
- Munoz, Lorena J
- Falcon Rodriguez, Liset
- Stankewich, Michael C
- Person, Richard E
- Si, Yue
- Normand, Elizabeth A
- Blevins, Amy
- May, Alison S
- Bier, Louise
- Aggarwal, Vimla
- Mancini, Grazia M S
- van Slegtenhorst, Marjon A
- Cremer, Kirsten
- Becker, Jessica
- Engels, Hartmut
- Aretz, Stefan
- MacKenzie, Jennifer J
- Brilstra, Eva
- van Gassen, Koen L I
- van Jaarsveld, Richard H
- Oegema, Renske
- Parsons, Gretchen M
- Mark, Paul
- Helbig, Ingo
- McKeown, Sarah E
- Stratton, Robert
- Cogne, Benjamin
- Isidor, Bertrand
- Cacheiro, Pilar
- Smedley, Damian
- Firth, Helen V
- Bierhals, Tatjana
- Kloth, Katja
- Weiss, Deike
- Fairley, Cecilia
- Shieh, Joseph T
- Kritzer, Amy
- Jayakar, Parul
- Kurtz-Nelson, Evangeline
- Bernier, Raphael A
- Wang, Tianyun
- Eichler, Evan E
- van de Laar, Ingrid M B H
- McConkie-Rosell, Allyn
- McDonald, Marie T
- Kemppainen, Jennifer
- Lanpher, Brendan C
- Schultz-Rogers, Laura E
- Gunderson, Lauren B
- Pichurin, Pavel N
- Yoon, Grace
- Zech, Michael
- Jech, Robert
- Winkelmann, Juliane
- Beltran, Adriana S
- Zimmermann, Michael T
- Temple, Brenda
- Moy, Sheryl S
- Klee, Eric W
- Tan, Queenie K-G
- Lorenzo, Damaris N
2021
Volltextzugriff (PDF)
American journal of human genetics, 2021-02, Vol.108 (2), p.346-356
- den Hoed, Joery
- de Boer, Elke
- Voisin, Norine
- Dingemans, Alexander J.M.
- Guex, Nicolas
- Wiel, Laurens
- Nellaker, Christoffer
- Amudhavalli, Shivarajan M.
- Banka, Siddharth
- Bena, Frederique S.
- Ben-Zeev, Bruria
- Bonagura, Vincent R.
- Bruel, Ange-Line
- Brunet, Theresa
- Brunner, Han G.
- Chew, Hui B.
- Chrast, Jacqueline
- Cimbalistienė, Loreta
- Coon, Hilary
- Délot, Emmanuèlle C.
- Démurger, Florence
- Denommé-Pichon, Anne-Sophie
- Depienne, Christel
- Donnai, Dian
- Dyment, David A.
- Elpeleg, Orly
- Faivre, Laurence
- Gilissen, Christian
- Granger, Leslie
- Haber, Benjamin
- Hachiya, Yasuo
- Abedi, Yasmin Hamzavi
- Hanebeck, Jennifer
- Hehir-Kwa, Jayne Y.
- Horist, Brooke
- Itai, Toshiyuki
- Jackson, Adam
- Jewell, Rosalyn
- Jones, Kelly L.
- Joss, Shelagh
- Kashii, Hirofumi
- Kato, Mitsuhiro
- Kattentidt-Mouravieva, Anja A.
- Kok, Fernando
- Kotzaeridou, Urania
- Krishnamurthy, Vidya
- Kučinskas, Vaidutis
- Kuechler, Alma
- Lavillaureix, Alinoë
- Liu, Pengfei
- Manwaring, Linda
- Matsumoto, Naomichi
- Mazel, Benoît
- McWalter, Kirsty
- Meiner, Vardiella
- Mikati, Mohamad A.
- Miyatake, Satoko
- Mizuguchi, Takeshi
- Moey, Lip H.
- Mohammed, Shehla
- Mor-Shaked, Hagar
- Mountford, Hayley
- Newbury-Ecob, Ruth
- Odent, Sylvie
- Orec, Laura
- Osmond, Matthew
- Palculict, Timothy B.
- Parker, Michael
- Petersen, Andrea K.
- Pfundt, Rolph
- Preikšaitienė, Eglė
- Radtke, Kelly
- Ranza, Emmanuelle
- Rosenfeld, Jill A.
- Santiago-Sim, Teresa
- Schwager, Caitlin
- Sinnema, Margje
- Snijders Blok, Lot
- Spillmann, Rebecca C.
- Stegmann, Alexander P.A.
- Thiffault, Isabelle
- Tran, Linh
- Vaknin-Dembinsky, Adi
- Vedovato-dos-Santos, Juliana H.
- Schrier Vergano, Samantha A.
- Vilain, Eric
- Vitobello, Antonio
- Wagner, Matias
- Waheeb, Androu
- Willing, Marcia
- Zuccarelli, Britton
- Kini, Usha
- Newbury, Dianne F.
- Kleefstra, Tjitske
- Reymond, Alexandre
- Fisher, Simon E.
- Vissers, Lisenka E.L.M.
2021
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
Journal of genetic counseling, 2016-10, Vol.25 (5), p.1019-1031
2016
Volltextzugriff (PDF)
The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-16
- Li, Dong
- Battig, Mark R
- Bosch, Daniëlle Gm
- van Haaften, Gijs
- Granger, Leslie
- Petersen, Andrea K
- Pérez-Jurado, Luis A
- Aznar-Laín, Gemma
- Hancarova, Miroslava
- Bendova, Sarka
- Schwarz, Martin
- Kremlikova Pourova, Radka
- Sedlacek, Zdenek
- Keena, Beth A
- March, Michael E
- Hou, Cuiping
- O'Connor, Nora
- Harr, Margaret H
- Towne, Meghan
- Li, Megan
- Tarnopolsky, Mark
- Brady, Lauren
- Faghfoury, Hanna
- Parsley, Lea Kristin
- Agolini, Emanuele
- Dentici, Maria Lisa
- Wright, Meredith
- Lai, Khanh
- Scala, Marcello
- Striano, Pasquale
- Iacomino, Michele
- Zara, Federico
- Cooper, Annina
- Byler, Melissa
- Balci, Tugce B
- Louie, Raymond
- Lyons, Michael
- Douglas, Jessica
- Nowak, Catherine
- Afenjar, Alexandra
- Hoyer, Juliane
- Keren, Boris
- Maas, Saskia M
- Martinez-Agosto, Julian A
- Rabani, Ahna M
- Falk, Marni J
- Ruggiero, Sarah M
- Helbig, Ingo
- Møller, Rikke S
- Krawitz, Peter M
- Ganapathi, Mythily
- Gelb, Bruce D
- Wilson, Ashley
- Jizi, Khadijé
- Quelin, Chloé
- Chick, Erika
- Uchiyama, Yuri
- Matsumoto, Naomichi
- Taira, Ryoji
- Tashiro, Katsuya
- Wollnik, Bernd
- Wagner, Michael
- Kutsche, Barbara
- Hurst, Anna Ce
- Thompson, Michelle L
- Schmidt, Ryan
- Randolph, Linda
- Spillmann, Rebecca C
- Shashi, Vandana
- Cordeiro, Dawn
- Carnevale, Amanda
- Funalot, Benoît
- Tran Mau-Them, Frederic
- Fernandez Garcia Moya, Luis
- Chad, Lauren
- Li, Chumei
- Sanchez-Valle, Amarilis
- Sulem, Patrick
- Gorokhova, Svetlana
- Busa, Tiffany
- Rio, Marlène
- Hadj Habdallah, Hamza
- Lesieur-Sebellin, Marion
- Amiel, Jeanne
- Pingault, Véronique
- Fatus-Fauconnier, Clemence
- Friend, Kathryn
- Halligan, Rebecca K
- Corbett, Mark
- Barnett, Christopher
- Gecz, Jozef
- Leppig, Kathleen
- Pfundt, Rolph
- de Vries, Bert Ba
- van Slegtenhorst, Marjon A
- Brooks, Alice S
- Cogne, Benjamin
- Zackai, Elaine H
- Song, Yuanquan
- Hakonarson, Hakon
2024
Volltextzugriff (PDF)
Genetics in medicine, 2019-01, Vol.21 (1), p.161-172
- Schoch, Kelly
- Spillmann, Rebecca
- Tan, Queenie K.-G.
- McConkie-Rosell, Allyn
- Jiang, Yong-Hui
- Goldstein, David B.
- Adams, David R.
- Allard, Patrick
- Ashley, Euan A.
- Bacino, Carlos A.
- Beggs, Alan H.
- Birch, Camille L.
- Bonner, Devon
- Boone, Braden E.
- Brown, Donna M.
- Chen, Shan
- Coakley, Terra R.
- Cogan, Joy D.
- Cooper, Cynthia M.
- Cope, Heidi
- Craigen, William J.
- Davidson, Jean M.
- Dayal, Jyoti G.
- Dell’Angelica, Esteban C.
- Dipple, Katrina M.
- Donnell-Fink, Laurel A.
- Dorrani, Naghmeh
- Draper, David D.
- Dries, Annika M.
- Eckstein, David J.
- Emrick, Lisa T.
- Enns, Gregory M.
- Esteves, Cecilia
- Estwick, Tyra
- Fernandez, Liliana
- Ferreira, Carlos
- Fisher, Paul G.
- Fogel, Brent L.
- Friedman, Noah D.
- Gahl, William A.
- Gourdine, Jean-Philippe F.
- Haendel, Melissa
- Handley, Lori H.
- Krasnewich, Donna M.
- Krier, Joel B.
- Lazar, Jozef
- 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
- Martin, Martin G.
- McCormack, Colleen E.
- Might, Matthew
- Morimoto, Marie
- Mulvihill, John J.
- Murphy, Jennifer L.
- Muzny, Donna M.
- Nehrebecky, Michele E.
- Nelson, Stan F.
- Newberry, J. Scott
- Newman, John H.
- Nicholas, Sarah K.
- Pallais, J. Carl
- Palmer, Christina GS
- Parker, Neil H.
- Phillips, John A.
- Postlethwait, John H.
- Reuter, Chloe M.
- Sampson, Jacinda B.
- Scott, Daryl A.
- Sharma, Prashant
- Shashi, Vandana
- Silverman, Edwin K.
- Tifft, Cynthia J.
- Toro, Camilo
- Tran, Alyssa A.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Walsh, Chris A.
- Wan, Jijun
- Wangler, Michael F.
- Ward, Patricia A.
- Wheeler, Matthew T.
- Wolfe, Lynne A.
- Worthey, Elizabeth A.
- Yamamoto, Shinya
- Yang, Yaping
- Yu, Guoyun
- Zhao, Chunli
- Zheng, Allison
2019
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Erscheinungsjahr
n.n
n.n
Thema
- Science & Technology
- Life Sciences & Biomedicine
- Genetics & Heredity
- Humans
- Child
- Female
- Male
- Phenotype
- Mutation
- Phenotypes
- Exome Sequencing
- Child, Preschool
- Diagnosis
- Health Care Sciences & Services
- Neurodevelopmental Disorders - Genetics
- Biomedical Social Sciences
- Genomes
- Genomics
- Health Policy & Services
- Intellectual Disability
Kollektion
- Journals@Ovid Complete
- MEDLINE
- Free E-Journal (出版社公開部分のみ）
- Wiley Online Library
- Springer Online Journals
- NUS Single-Journal Subscriptions
- IngentaConnect
- Wiley Online Library
- Springer Nature - Connect here FIRST to enable access
- ScienceDirect
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Applied Social Sciences Index & Abstracts (ASSIA)
- IngentaConnect Journals
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- JSTOR
- Nexis Uni
- Oxford Journals
- Psychology and Behavioral Sciences Collection
- Oxford Journals 2020 Medicine
Zeitschrift / Serie
Neu hinzugefügt