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American journal of human genetics, 2015-07, Vol.97 (1), p.6-21
2015
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Genetics in medicine, 2013-03, Vol.15 (3), p.234-245
2013
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The Journal of pediatrics, 2016-06, Vol.173, p.143-148
2016
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The Journal of pediatrics, 2012-03, Vol.160 (3), p.461-467
2012
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The Lancet (British edition), 2020-09, Vol.396 (10252), p.684-692
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William
- Bacino, Carlos A
- Hoover-Fong, Julie
- Ullot Font, Rosendo
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael B
- Polgreen, Lynda E
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kagami, Shoji
- Yasui, Natsuo
- White, Klane K
- Saal, Howard M
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania M
- Jayaram, Kala
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan
2020
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The Journal of pediatrics, 2015-10, Vol.167 (4), p.851-856.e1
2015
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Journal of allergy and clinical immunology, 2016-01, Vol.137 (1), p.179-187.e10
2016
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Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.4-17
2017
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American journal of human genetics, 2015-05, Vol.96 (5), p.765-774
2015
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JAMA pediatrics, 2016-09, Vol.170 (9), p.894
- Breugem, Corstiaan C
- Evans, Kelly N
- Poets, Christian F
- Suri, Sunjay
- Picard, Arnaud
- Filip, Charles
- Paes, Emma C
- Mehendale, Felicity V
- Saal, Howard M
- Basart, Hanneke
- Murthy, Jyotsna
- Joosten, Koen F M
- Speleman, Lucienne
- Collares, Marcus V M
- van den Boogaard, Marie-José H
- Muradin, Marvick
- Andersson, Maud Els-Marie
- Kogo, Mikihiko
- Farlie, Peter G
- Don Griot, Peter
- Mossey, Peter A
- Slator, Rona
- Abadie, Veronique
- Hong, Paul
2016
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Genetics in medicine, 2021-12, Vol.23 (12), p.2443-2447
- Savarirayan, Ravi
- Tofts, Louise
- Irving, Melita
- Wilcox, William R
- Bacino, Carlos A
- Hoover-Fong, Julie
- Font, Rosendo Ullot
- Harmatz, Paul
- Rutsch, Frank
- Bober, Michael B
- Polgreen, Lynda E
- Ginebreda, Ignacio
- Mohnike, Klaus
- Charrow, Joel
- Hoernschemeyer, Daniel
- Ozono, Keiichi
- Alanay, Yasemin
- Arundel, Paul
- Kotani, Yumiko
- Yasui, Natsuo
- White, Klane K
- Saal, Howard M
- Leiva-Gea, Antonio
- Luna-González, Felipe
- Mochizuki, Hiroshi
- Basel, Donald
- Porco, Dania M
- Jayaram, Kala
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan R S
2021
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American journal of human genetics, 2015-04, Vol.96 (4), p.519-531
- Gordon, Christopher T.
- Weaver, K. Nicole
- Zechi-Ceide, Roseli Maria
- Madsen, Erik C.
- Tavares, Andre L.P.
- Oufadem, Myriam
- Kurihara, Yukiko
- Adameyko, Igor
- Picard, Arnaud
- Breton, Sylvain
- Pierrot, Sébastien
- Biosse-Duplan, Martin
- Voisin, Norine
- Masson, Cécile
- Bole-Feysot, Christine
- Nitschké, Patrick
- Delrue, Marie-Ange
- Lacombe, Didier
- Guion-Almeida, Maria Leine
- Moura, Priscila Padilha
- Garib, Daniela Gamba
- Munnich, Arnold
- Ernfors, Patrik
- Hufnagel, Robert B.
- Hopkin, Robert J.
- Kurihara, Hiroki
- Saal, Howard M.
- Weaver, David D.
- Katsanis, Nicholas
- Lyonnet, Stanislas
- Golzio, Christelle
- Clouthier, David E.
- Amiel, Jeanne
2015
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Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-204, Article 204
2020
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The Journal of pediatrics, 2015-12, Vol.167 (6), p.1404-1408.e1
2015
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Facial plastic surgery clinics of North America, 2016-11, Vol.24 (4), p.405
2016
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Journal of the neurological sciences, 2019-08, Vol.403, p.114-116
2019
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American journal of medical genetics. Part C, Seminars in medical genetics, 2020-09, Vol.184 (3), p.644-655
2020
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Genesis (New York, N.Y. : 2000), 2019-01, Vol.57 (1), p.e23259-n/a
2019
Link zum Volltext
European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.652-659
- Koolen, David A
- Pfundt, Rolph
- Linda, Katrin
- Beunders, Gea
- Veenstra-Knol, Hermine E
- Conta, Jessie H
- Fortuna, Ana Maria
- Gillessen-Kaesbach, Gabriele
- Dugan, Sarah
- Halbach, Sara
- Abdul-Rahman, Omar A
- Winesett, Heather M
- Chung, Wendy K
- Dalton, Marguerite
- Dimova, Petia S
- Mattina, Teresa
- Prescott, Katrina
- Zhang, Hui Z
- Saal, Howard M
- Hehir-Kwa, Jayne Y
- Willemsen, Marjolein H
- Ockeloen, Charlotte W
- Jongmans, Marjolijn C
- Van der Aa, Nathalie
- Failla, Pinella
- Barone, Concetta
- Avola, Emanuela
- Brooks, Alice S
- Kant, Sarina G
- Gerkes, Erica H
- Firth, Helen V
- Õunap, Katrin
- Bird, Lynne M
- Masser-Frye, Diane
- Friedman, Jennifer R
- Sokunbi, Modupe A
- Dixit, Abhijit
- Splitt, Miranda
- Kukolich, Mary K
- McGaughran, Julie
- Coe, Bradley P
- Flórez, Jesús
- Nadif Kasri, Nael
- Brunner, Han G
- Thompson, Elizabeth M
- Gecz, Jozef
- Romano, Corrado
- Eichler, Evan E
- de Vries, Bert B A
2016
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American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.413-423
2021
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Human molecular genetics, 2015-06, Vol.24 (12), p.3399-3409
2015
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American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.160-177
2022
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Genetics in medicine, 2022-12, Vol.24 (12), p.2444-2452
- Savarirayan, Ravi
- Irving, Melita
- Harmatz, Paul
- Delgado, Borja
- Wilcox, William R.
- Philips, John
- Owen, Natalie
- Bacino, Carlos A.
- Tofts, Louise
- Charrow, Joel
- Polgreen, Lynda E.
- Hoover-Fong, Julie
- Arundel, Paul
- Ginebreda, Ignacio
- Saal, Howard M.
- Basel, Donald
- Font, Rosendo Ullot
- Ozono, Keiichi
- Bober, Michael B.
- Cormier-Daire, Valerie
- Le Quan Sang, Kim-Hanh
- Baujat, Genevieve
- Alanay, Yasemin
- Rutsch, Frank
- Hoernschemeyer, Daniel
- Mohnike, Klaus
- Mochizuki, Hiroshi
- Tajima, Asako
- Kotani, Yumiko
- Weaver, David D.
- White, Klane K.
- Army, Clare
- Larrimore, Kevin
- Gregg, Keith
- Jeha, George
- Milligan, Claire
- Fisheleva, Elena
- Huntsman-Labed, Alice
- Day, Jonathan
2022
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Pediatrics (Evanston), 2013-10, Vol.132 (4), p.e1059
2013
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American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.487-491
2016
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