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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Gripp, Karen W. ; Robbins, Katherine M. ; Sobreira, Nara L. ; Witmer, P. Dane ; Bird, Lynne M. ; Avela, Kristiina ; Makitie, Outi ; Alves, Daniela ; Hogue, Jacob S. ; Zackai, Elaine H. ; Doheny, Kimberly F. ; Stabley, Deborah L. ; Sol-Church, Katia

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations
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KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Al Dhaheri, Noura ; Wu, Nan ; Zhao, Sen ; Wu, Zhihong ; Blank, Robert D. ; Zhang, Jianguo ; Raggio, Cathy ; Halanski, Matthew ; Shen, Jianxiong ; Noonan, Ken ; Qiu, Guixing ; Nemeth, Blaise ; Sund, Sarah ; Dunwoodie, Sally L. ; Chapman, Gavin ; Glurich, Ingrid ; Steiner, Robert D. ; Wohler, Elizabeth ; Martin, Renan ; Sobreira, Nara Lygia ; Giampietro, Philip F.

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1664-1672 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Dyment, David A. ; O'Donnell‐Luria, Anne ; Agrawal, Pankaj B. ; Coban Akdemir, Zeynep ; Aleck, Kyrieckos A. ; Antaki, Danny ; Al Sharhan, Hind ; Au, Ping‐Yee B. ; Aydin, Hatip ; Beggs, Alan H. ; Bilguvar, Kaya ; Boerwinkle, Eric ; Brand, Harrison ; Brownstein, Catherine A. ; Buyske, Steve ; Chodirker, Bernard ; Choi, Jungmin ; Chudley, Albert E. ; Clericuzio, Carol L. ; Cox, Gerald F. ; Curry, Cynthia ; Boer, Elke ; Vries, Bert B. A. ; Dunn, Kathryn ; Dutmer, Cullen M. ; England, Eleina M. ; Fahrner, Jill A. ; Geckinli, Bilgen B. ; Genetti, Casie A. ; Gezdirici, Alper ; Gibson, William T. ; Gleeson, Joseph G. ; Greenberg, Cheryl R. ; Hall, April ; Hamosh, Ada ; Hartley, Taila ; Jhangiani, Shalini N. ; Karaca, Ender ; Kernohan, Kristin ; Lauzon, Julie L. ; Lewis, M. E. Suzanne ; Lowry, R. Brian ; López‐Giráldez, Francesc ; Matise, Tara C. ; McEvoy‐Venneri, Jennifer ; McInnes, Brenda ; Mhanni, Aziz ; Garcia Minaur, Sixto ; Moilanen, Jukka ; Nguyen, An ; Nowaczyk, Malgorzata J. M. ; Posey, Jennifer E. ; Õunap, Katrin ; Pehlivan, Davut ; Pajusalu, Sander ; Penney, Lynette S. ; Poterba, Timothy ; Prontera, Paolo ; Doriqui, Maria Juliana Rodovalho ; Sawyer, Sarah L. ; Sobreira, Nara ; Stanley, Valentina ; Torun, Deniz ; Wargowski, David ; Witmer, P. Dane ; Wong, Isaac ; Xing, Jinchuan ; Zaki, Maha S. ; Zhang, Yeting ; Boycott, Kym M. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Blue, Elizabeth E. ; Innes, A. Micheil

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.119-133 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder
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Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder

Sobreira, Nara ; Walsh, Michael F. ; Batista, Denise ; Wang, Tao

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2581-2583 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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