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1
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis
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Article
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Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

Adam, Aaron P. ; Curry, Cynthia J. ; Hall, Judith G. ; Keppler‐Noreuil, Kim M. ; Adam, Margaret P. ; Dobyns, William B.

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2646-2661 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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2
Genetic disorders associated with postnatal microcephaly
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Genetic disorders associated with postnatal microcephaly

Seltzer, Laurie E. ; Paciorkowski, Alex R.

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-06, Vol.166C (2), p.140-155

United States: Blackwell Publishing Ltd

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3
Microtia: Epidemiology and genetics
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Article
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Microtia: Epidemiology and genetics

Luquetti, Daniela V. ; Heike, Carrie L. ; Hing, Anne V. ; Cunningham, Michael L. ; Cox, Timothy C.

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.124-139 [Peer Reviewed Journal]

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

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4
Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review
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Article
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Candidate genes of oculo‐auriculo‐vertebral spectrum in 22q region: A systematic review

Glaeser, Andressa Barreto ; Santos, Andressa Schneiders ; Diniz, Bruna Lixinski ; Deconte, Desireé ; Rosa, Rafael Fabiano Machado ; Zen, Paulo Ricardo Gazzola

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2624-2631 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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5
Toward an orofacial gene regulatory network
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Article
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Toward an orofacial gene regulatory network

Kousa, Youssef A. ; Schutte, Brian C.

Developmental dynamics, 2016-03, Vol.245 (3), p.220-232 [Peer Reviewed Journal]

United States: Wiley Subscription Services, Inc

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6
Genomic imbalances in craniofacial microsomia
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Genomic imbalances in craniofacial microsomia

Spineli‐Silva, Samira ; Sgardioli, Ilária C. ; Santos, Ana P. ; Bergamini, Luna L. ; Monlleó, Isabella L. ; Fontes, Marshall I. B. ; Félix, Têmis M. ; Ribeiro, Erlane M. ; Xavier, Ana C. ; Lustosa‐Mendes, Elaine ; Gil‐da‐Silva‐Lopes, Vera L. ; Vieira, Tarsis P.

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.970-985

Hoboken, USA: John Wiley & Sons, Inc

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7
Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms
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Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms

Zamariolli, Malú ; Burssed, Bruna ; Moysés‐Oliveira, Mariana ; Colovati, Mileny ; Bellucco, Fernanda Teixeira da Silva ; Santos, Leonardo Caires ; Alvarez Perez, Ana Beatriz ; Bragagnolo, Silvia ; Melaragno, Maria Isabel

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2056-2064 [Peer Reviewed Journal]

Hoboken, USA: John Wiley & Sons, Inc

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8
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
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Article
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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Ferese, Rosangela ; Bonetti, Monica ; Consoli, Federica ; Guida, Valentina ; Sarkozy, Anna ; Lepri, Francesca Romana ; Versacci, Paolo ; Gambardella, Stefano ; Calcagni, Giulio ; Margiotti, Katia ; Piceci Sparascio, Francesca ; Hozhabri, Hossein ; Mazza, Tommaso ; Digilio, Maria Cristina ; Dallapiccola, Bruno ; Tartaglia, Marco ; Marino, Bruno ; Hertog, Jeroen den ; Luca, Alessandro

Human mutation, 2018-10, Vol.39 (10), p.1428-1441 [Peer Reviewed Journal]

United States: Hindawi Limited

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9
Syndromes of the first and second pharyngeal arches: A review
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Article
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Syndromes of the first and second pharyngeal arches: A review

Passos-Bueno, Maria Rita ; Ornelas, Camila C. ; Fanganiello, Roberto D.

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1853-1859 [Peer Reviewed Journal]

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

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10
Identification of a de novo PUF60 variant associated with craniofacial microsomia
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Article
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Identification of a de novo PUF60 variant associated with craniofacial microsomia

Ogawa, Takuya ; Xue, Jingyi ; Guo, Long ; Inoue-Arai, Maristela Sayuri ; Vendramini-Pittoli, Siulan ; Zechi-Ceide, Roseli Maria ; Candido-Souza, Rosana Maria ; Tonello, Cristiano ; Brandão, Michele Madeira ; Ozawa, Terumi Okada ; Peixoto, Adriano Porto ; Ruiz, Daniela Maria Cury Ferreira ; Nakashima, Tomoki ; Ikegawa, Shiro ; Moriyama, Keiji ; Kokitsu-Nakata, Nancy Mizue

American journal of medical genetics. Part A, 2024-04, p.e63631 [Peer Reviewed Journal]

United States

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