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Nature (London), 2020-01, Vol.577 (7788), p.109-114
- Tao, Panfeng
- Sun, Jinqiao
- Wu, Zheming
- Wang, Shihao
- Wang, Jun
- Li, Wanjin
- Pan, Heling
- Bai, Renkui
- Zhang, Jiahui
- Wang, Ying
- Lee, Pui Y
- Ying, Wenjing
- Zhou, Qinhua
- Hou, Jia
- Wang, Wenjie
- Sun, Bijun
- Yang, Mi
- Liu, Danru
- Fang, Ran
- Han, Huan
- Yang, Zhaohui
- Huang, Xin
- Li, Haibo
- Deuitch, Natalie
- Zhang, Yuan
- Dissanayake, Dilan
- Haude, Katrina
- McWalter, Kirsty
- Roadhouse, Chelsea
- MacKenzie, Jennifer J
- Laxer, Ronald M
- Aksentijevich, Ivona
- Yu, Xiaomin
- Wang, Xiaochuan
- Yuan, Junying
- Zhou, Qing
2020
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BMC medical education, 2019-06, Vol.19 (1), p.195-10, Article 195
2019
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BMJ open, 2022-02, Vol.12 (2), p.e055664-e055664
- Chow, Andrea J
- Iverson, Ryan
- Lamoureux, Monica
- Tingley, Kylie
- Jordan, Isabel
- Pallone, Nicole
- Smith, Maureen
- Al-Baldawi, Zobaida
- Chakraborty, Pranesh
- Brehaut, Jamie
- Chan, Alicia
- Cohen, Eyal
- Dyack, Sarah
- Gillis, Lisa Jane
- Goobie, Sharan
- Graham, Ian D
- Greenberg, Cheryl R
- Grimshaw, Jeremy M
- Hayeems, Robin Z
- Jain-Ghai, Shailly
- Jolly, Ann
- Khangura, Sara
- MacKenzie, Jennifer J
- Major, Nathalie
- Mitchell, John J
- Nicholls, Stuart G
- Pender, Amy
- Potter, Murray
- Prasad, Chitra
- Prosser, Lisa A
- Schulze, Andreas
- Siriwardena, Komudi
- Sparkes, Rebecca
- Speechley, Kathy
- Stockler, Sylvia
- Taljaard, Monica
- Teitelbaum, Mari
- Trakadis, Yannis
- van Karnebeek, Clara
- Walia, Jagdeep S
- Wilson, Brenda J
- Wilson, Kumanan
- Potter, Beth K
2022
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Pediatric neurology, 2014-08, Vol.51 (2), p.192-197
2014
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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
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Journal of anatomy, 2024-06, Vol.244 (6), p.1093-1101
2024
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Journal of medical education and curricular development, 2019-01, Vol.6, p.2382120519836789-2382120519836789
2019
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
- Zepeda-Mendoza, Cinthya J.
- Ibn-Salem, Jonas
- Kammin, Tammy
- Harris, David J.
- Rita, Debra
- Gripp, Karen W.
- MacKenzie, Jennifer J.
- Gropman, Andrea
- Graham, Brett
- Shaheen, Ranad
- Alkuraya, Fowzan S.
- Brasington, Campbell K.
- Spence, Edward J.
- Masser-Frye, Diane
- Bird, Lynne M.
- Spiegel, Erica
- Sparkes, Rebecca L.
- Ordulu, Zehra
- Talkowski, Michael E.
- Andrade-Navarro, Miguel A.
- Robinson, Peter N.
- Morton, Cynthia C.
2017
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Journal of community genetics, 2019-01, Vol.10 (1), p.85-93
2019
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Case reports in pediatrics, 2016-01, Vol.2016, p.6123150-6
2016
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Movement disorders clinical practice (Hoboken, N.J.), 2020-10, Vol.7 (7), p.834-837
2020
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Journal of genetic counseling, 2017-06, Vol.26 (3), p.541-547
2017
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Canadian journal of ophthalmology, 2019-08, Vol.54 (4), p.e194-e196
2019
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American journal of audiology, 2014-03, Vol.23 (1), p.1
2014
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American journal of human genetics, 2021-03, Vol.108 (3), p.502-516
- Radio, Francesca Clementina
- Ciolfi, Andrea
- Levy, Michael A.
- Hernández-García, Andrés
- Pedace, Lucia
- Pantaleoni, Francesca
- Liu, Zhandong
- de Boer, Elke
- Jackson, Adam
- Bruselles, Alessandro
- McConkey, Haley
- Stellacci, Emilia
- Lo Cicero, Stefania
- Motta, Marialetizia
- Carrozzo, Rosalba
- McWalter, Kirsty
- Desai, Megha
- Monaghan, Kristin G.
- Telegrafi, Aida
- Philippe, Christophe
- Vitobello, Antonio
- Au, Margaret
- Grand, Katheryn
- Baez, Joanne
- Lindstrom, Kristin
- Kulch, Peggy
- Sebastian, Jessica
- Madan-Khetarpal, Suneeta
- Roadhouse, Chelsea
- MacKenzie, Jennifer J.
- Monteleone, Berrin
- Saunders, Carol J.
- Jean Cuevas, July K.
- Zhou, Dihong
- Sawyer, Sarah L.
- Monteiro, Fabíola Paoli
- Secches, Tania Vertemati
- Kok, Fernando
- Schultz-Rogers, Laura E.
- Morava, Eva
- Klee, Eric W.
- Kemppainen, Jennifer
- Iascone, Maria
- Selicorni, Angelo
- Tenconi, Romano
- Pais, Lynn
- Gallacher, Lyndon
- Turnpenny, Peter D.
- Stals, Karen
- Ellard, Sian
- Cabet, Sara
- Lesca, Gaetan
- Pascal, Joset
- Steindl, Katharina
- Weiss, Karin
- Carter, Melissa T.
- Kalsner, Louisa
- de Vries, Bert B.A.
- van Bon, Bregje W.
- Wevers, Marijke R.
- Pfundt, Rolph
- Stegmann, Alexander P.A.
- Kerr, Bronwyn
- Chandler, Kate E.
- Sheehan, Willow
- Elias, Abdallah F.
- Shinde, Deepali N.
- Towne, Meghan C.
- Robin, Nathaniel H.
- Goodloe, Dana
- Vanderver, Adeline
- Sherbini, Omar
- Bluske, Krista
- Faletra, Flavio
- Musante, Luciana
- Kurtz-Nelson, Evangeline C.
- Earl, Rachel K.
- Anderlid, Britt-Marie
- Morin, Gilles
- van Slegtenhorst, Marjon
- Diderich, Karin E.M.
- Brooks, Alice S.
- Gribnau, Joost
- Boers, Ruben G.
- Finestra, Teresa Robert
- Carter, Lauren B.
- Rauch, Anita
- Gasparini, Paolo
- Boycott, Kym M.
- Barakat, Tahsin Stefan
- Graham, John M.
- Faivre, Laurence
- Banka, Siddharth
- Wang, Tianyun
- Eichler, Evan E.
- Dallapiccola, Bruno
- Vissers, Lisenka E.L.M.
- Sadikovic, Bekim
- Holder, Jimmy Lloyd
- Tartaglia, Marco
2021
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American journal of medical genetics. Part A, 2003-02, Vol.116A (4), p.348-351
2003
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Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A4-A5
2015
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Clinical biochemistry, 2014-10, Vol.47 (15), p.151-152
2014
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Canadian Medical Association journal, 1998-11, Vol.159 (10), p.1273
1998
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Clinical genetics, 2006-07, Vol.70 (1), p.39-42
2006
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Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 2019, Vol.54 (4), p.e194-e196
2019
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Movement disorders clinical practice, 2020, Vol.7 (7), p.834-837
2020
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American journal of medical genetics, 2003, Vol.116A (4), p.348-351
2003
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Nature communications, 2020-04, Vol.11 (1), p.1711-1711, Article 1711
2020
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