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American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.717-731
- Dabell, Mindy Preston
- Rosenfeld, Jill A.
- Bader, Patricia
- Escobar, Luis F.
- El-Khechen, Dima
- Vallee, Stephanie E.
- Dinulos, Mary Beth Palko
- Curry, Cynthia
- Fisher, Jamie
- Tervo, Raymond
- Hannibal, Mark C.
- Siefkas, Kiana
- Wyatt, Philip R.
- Hughes, Lauren
- Smith, Rosemarie
- Ellingwood, Sara
- Lacassie, Yves
- Stroud, Tracy
- Farrell, Sandra A.
- Sanchez-Lara, Pedro A.
- Randolph, Linda M.
- Niyazov, Dmitriy
- Stevens, Cathy A.
- Schoonveld, Cheri
- Skidmore, David
- MacKay, Sara
- Miles, Judith H.
- Moodley, Manikum
- Huillet, Adam
- Neill, Nicholas J.
- Ellison, Jay W.
- Ballif, Blake C.
- Shaffer, Lisa G.
2013
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American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1789-1792
2010
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American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2139-2151
- Strehle, Eugen-Matthias
- Yu, Linbo
- Rosenfeld, Jill A.
- Donkervoort, Sandra
- Zhou, Yulin
- Chen, Tian-Jian
- Martinez, Jose E.
- Fan, Yao-Shan
- Barbouth, Deborah
- Zhu, Hongbo
- Vaglio, Alicia
- Smith, Rosemarie
- Stevens, Cathy A.
- Curry, Cynthia J.
- Ladda, Roger L.
- Fan, Zheng (Jane)
- Fox, Joyce E.
- Martin, Judith A.
- Abdel-Hamid, Hoda Z.
- McCracken, Elizabeth A.
- McGillivray, Barbara C.
- Masser-Frye, Diane
- Huang, Taosheng
2012
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American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2416-2425
- Robin, Nathaniel H.
- Taylor, Clare J.
- McDonald-McGinn, Donna M.
- Zackai, Elaine H.
- Bingham, Peter
- Collins, Kevin J.
- Earl, Dawn
- Gill, Deepak
- Granata, Tiziana
- Guerrini, Renzo
- Katz, Naomi
- Kimonis, Virginia
- Lin, Jean-Pierre
- Lynch, David R.
- Mohammed, Shehla N.
- Massey, Roger F.
- McDonald, Marie
- Rogers, R. Curtis
- Splitt, Miranda
- Stevens, Cathy A.
- Tischkowitz, Marc D.
- Stoodley, Neil
- Leventer, Richard J
- Pilz, Daniela T.
- Dobyns, William B.
2006
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Genetics in medicine, 2019-10, Vol.21 (10), p.2199-2207
2019
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American journal of human genetics, 2021-01, Vol.108 (1), p.8-15
- Biesecker, Leslie G.
- Adam, Margaret P.
- Alkuraya, Fowzan S.
- Amemiya, Anne R.
- Bamshad, Michael J.
- Beck, Anita E.
- Bennett, James T.
- Bird, Lynne M.
- Carey, John C.
- Chung, Brian
- Clark, Robin D.
- Cox, Timothy C.
- Curry, Cynthia
- Dinulos, Mary Beth Palko
- Dobyns, William B.
- Giampietro, Philip F.
- Girisha, Katta M.
- Glass, Ian A.
- Graham, John M.
- Gripp, Karen W.
- Haldeman-Englert, Chad R.
- Hall, Bryan D.
- Innes, A. Micheil
- Kalish, Jennifer M.
- Keppler-Noreuil, Kim M.
- Kosaki, Kenjiro
- Kozel, Beth A.
- Mirzaa, Ghayda M.
- Mulvihill, John J.
- Nowaczyk, Malgorzata J.M.
- Pagon, Roberta A.
- Retterer, Kyle
- Rope, Alan F.
- Sanchez-Lara, Pedro A.
- Seaver, Laurie H.
- Shieh, Joseph T.
- Slavotinek, Anne M.
- Sobering, Andrew K.
- Stevens, Cathy A.
- Stevenson, David A.
- Tan, Tiong Yang
- Tan, Wen-Hann
- Tsai, Anne C.
- Weaver, David D.
- Williams, Marc S.
- Zackai, Elaine
- Zarate, Yuri A.
2021
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American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1463-1536
2018
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Brain (London, England : 1878), 2021-08, Vol.144 (7), p.2092-2106
- El Ghaleb, Yousra
- Schneeberger, Pauline E
- Fernández-Quintero, Monica L
- Geisler, Stefanie M
- Pelizzari, Simone
- Polstra, Abeltje M
- van Hagen, Johanna M
- Denecke, Jonas
- Campiglio, Marta
- Liedl, Klaus R
- Stevens, Cathy A
- Person, Richard E
- Rentas, Stefan
- Marsh, Eric D
- Conlin, Laura K
- Tuluc, Petronel
- Kutsche, Kerstin
- Flucher, Bernhard E
2021
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American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2399-2401
2015
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American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.623-627
2020
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Journal of medical genetics, 2013-03, Vol.50 (3), p.194-197
2013
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Journal of pediatric hematology/oncology, 2020-05, Vol.42 (4), p.e228
2020
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The journal of clinical endocrinology and metabolism, 2021-02, Vol.106 (2), p.e660-e674
- Pelletier, Félixe
- Cayami, Ferdy K
- Mirchi, Amytice
- Saikali, Stephan
- Tran, Luan T
- Ulrick, Nicole
- van Spaendonk, Rosalina M L
- Naidu, Sakkubai
- Pohl, Daniela
- Gibson, William T
- Demos, Michelle
- Goizet, Cyril
- Tejera-Martin, Ingrid
- Potic, Ana
- Fogel, Brent L
- Brais, Bernard
- Sylvain, Michel
- Sébire, Guillaume
- Lourenço, Charles Marques
- Catsman-Berrevoets, Coriene
- Pinto, Pedro S
- Tirupathi, Sandya
- Strømme, Petter
- Gieruszczak-Bialek, Dorota
- Krägeloh-Mann, Ingeborg
- Mierzewska, Hanna
- Philippi, Heike
- Rankin, Julia
- Atik, Tahir
- Banwell, Brenda
- Benko, William S
- Blaschek, Astrid
- Bley, Annette
- Boltshauser, Eugen
- Bratkovic, Drago
- Brozova, Klara
- Cimas, Icíar
- Clough, Christopher
- Dinopoulos, Argirios
- Dolan, Gail
- Faletra, Flavio
- Fernandez, Raymond
- Fletcher, Janice
- Garcia Garcia, Maria Eugenia
- Gasparini, Paolo
- Gburek-Augustat, Janina
- Gonzalez Moron, Dolores
- Hamati, Aline
- Harting, Inga
- Hertzberg, Christoph
- Hill, Alan
- Kauffman, Marcelo
- Kluger, Gerhard
- Kotzaeridou, Urania
- La Piana, Roberta
- Liston, Eriskay
- McClintock, William
- McEntagart, Meriel
- McKenzie, Fiona
- Melançon, Serge
- Misbahuddin, Anjum
- Suri, Mohnish
- Monton, Fernando I
- Murphy, Raymond P J
- Nickel, Miriam
- Onay, Hüseyin
- Orcesi, Simona
- Özkınay, Ferda
- Patzer, Steffi
- Pedro, Helio
- Pineda Marfa, Mercedes
- Pizzino, Amy
- Plecko, Barbara
- Poll-The, Bwee Tien
- Popovic, Vera
- Rating, Dietz
- Rioux, Marie-France
- Ronan, Anne
- Ostergaard, John R
- Rossignol, Elsa
- Sanchez-Carpintero, Rocio
- Schossig, Anna
- Sønderberg Roos, Laura K
- Synofzik, Matthis
- Sztriha, László
- Tibussek, Daniel
- Timmann, Dagmar
- Tonduti, Davide
- van de Warrenburg, Bart P
- Vázquez-López, Maria
- Venkateswaran, Sunita
- Wasling, Pontus
- Webster, Richard I
- Wiegand, Gert
- Yoon, Grace
- Rotteveel, Joost
- Schiffmann, Raphael
- Vanderver, Adeline
- Martos-Moreno, Gabriel Á
- Bernard, Geneviève
2021
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American journal of medical genetics, 2003-06, Vol.119A (2), p.101-110
2003
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American journal of medical genetics. Part A, 2011-07, Vol.155 (7), p.1680-1684
2011
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American journal of human genetics, 2011-08, Vol.89 (2), p.345-345
- Rope, Alan F.
- Wang, Kai
- Evjenth, Rune
- Xing, Jinchuan
- Johnston, Jennifer J.
- Swensen, Jeffrey J.
- Johnson, W. Evan
- Moore, Barry
- Huff, Chad D.
- Bird, Lynne M.
- Carey, John C.
- Opitz, John M.
- Stevens, Cathy A.
- Jiang, Tao
- Schank, Christa
- Fain, Heidi Deborah
- Robison, Reid
- Dalley, Brian
- Chin, Steven
- South, Sarah T.
- Pysher, Theodore J.
- Jorde, Lynn B.
- Hakonarson, Hakon
- Lillehaug, Johan R.
- Biesecker, Leslie G.
- Yandell, Mark
- Arnesen, Thomas
- Lyon, Gholson J.
2011
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Prenatal diagnosis, 2024-02, Vol.44 (2), p.237-246
2024
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Molecular genetics and metabolism, 2011-04, Vol.102 (4), p.470-480
2011
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The journal of clinical endocrinology and metabolism, 2018-04, Vol.103 (4), p.1269-1272
2018
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American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2476-2478
2016
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American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2243-2249
2018
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American journal of human genetics, 2021-09, Vol.108 (9), p.1809-1810
- Biesecker, Leslie G
- Adam, Margaret P
- Alkuraya, Fowzan S
- Amemiya, Anne R
- Bamshad, Michael J
- Beck, Anita E
- Bennett, James T
- Bird, Lynne M
- Carey, John C
- Chung, Brian
- Clark, Robin D
- Cox, Timothy C
- Curry, Cynthia
- Dinulos, Mary Beth Palko
- Dobyns, William B
- Giampietro, Philip F
- Girisha, Katta M
- Glass, Ian A
- Graham, Jr, John M
- Gripp, Karen W
- Haldeman-Englert, Chad R
- Hall, Bryan D
- Innes, A Micheil
- Kalish, Jennifer M
- Keppler-Noreuil, Kim M
- Kosaki, Kenjiro
- Kozel, Beth A
- Mirzaa, Ghayda M
- Mulvihill, John J
- Nowaczyk, Malgorzata J M
- Pagon, Roberta A
- Retterer, Kyle
- Rope, Alan F
- Sanchez-Lara, Pedro A
- Seaver, Laurie H
- Shieh, Joseph T
- Slavotinek, Anne M
- Sobering, Andrew K
- Stevens, Cathy A
- Stevenson, David A
- Tan, Tiong Yang
- Tan, Wen-Hann
- Tsai, Anne C
- Weaver, David D
- Williams, Marc S
- Zackai, Elaine
- Zarate, Yuri A
2021
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Journal of clinical rheumatology, 2016-03, Vol.22 (2), p.92
2016
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American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1543-1546
- Carter, Lauren B.
- Battaglia, Agatino
- Cherry, Athena
- Manning, Melanie A.
- Ruzhnikov, Maura RZ
- Bird, Lynne M.
- Dowsett, Leah
- Graham, John M.
- Alkuraya, Fowzan S.
- Hashem, Mais
- Dinulos, Mary Beth
- Vallee, Stephanie
- Adam, Margaret P.
- Glass, Ian
- Beck, Anita E.
- Stevens, Cathy A.
- Zackai, Elaine
- McDougall, Carey
- Keena, Beth
- Peron, Angela
- Vignoli, Aglaia
- Seaver, Laurie H.
- Slavin, Thomas P.
- Hudgins, Louanne
2019
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American journal of respiratory and critical care medicine, 2006-10, Vol.174 (8), p.923-927
2006
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