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1 .
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2
저자
by
Siulan Vendramini-Pittoli
;
Maria Leine Guion-Almeida
;
Roseli Maria Zechi-Ceide
;
Nancy Mizue Kokitsu-Nakata
;
David R. FitzPatrick
, et al.
소스
J Pediatr Genet
Journal of Pediatric Genetics, 09(04), 258-262. Georg Thieme Verlag
Open Access (OpenAIRE)
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7 .
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
저자
by
Eduardo Perrone
;
Patricia C Mazzonetto
;
Angela Maria Vianna-Morgante
;
Gustavo Guida
;
Carla Rosenberg
, et al.
소스
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Open Access (OpenAIRE)
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7 .
Copy number variations as a risk factor for couples with idiopathic recurrent miscarriage: A systematic review
저자
by
Sheila Janaina Sestari
;
Bruno Faulin Gamba
;
Francis Patrício França Ferreira
;
Roberta Machado de Oliveira Frota Curado
;
Eduardo Camelo de Castro
, et al.
소스
Human Reproduction Archives
. 37:e000821
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7 .
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
저자
by
Camila Cristina de Oliveira Alves
;
Nádia Aparecida Bérgamo
;
Bruno Faulin Gamba
;
Lucilene Arilho Ribeiro-Bicudo
;
Marlene Viviane Pires Fernandes Santos
, et al.
소스
International Journal of Cardiovascular Sciences
.
Open Access (OpenAIRE)
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7 .
Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome
저자
by
Sophia B. Hufnagel
;
Antonio Richieri-Costa
;
Robert J. Hopkin
;
Erich Roessler
;
Maximilian Muenke
, et al.
소스
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Full Text (OUP)
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7 .
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
저자
by
Bruno F. Gamba
;
Lucilene Arilho Ribeiro-Bicudo
;
Siulan Vendramini-Pittoli
;
Nancy Mizue Kokitsu-Nakata
;
Ana C.V. Krepischi Santos
, et al.
소스
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Contents Vol. 7, 2016
저자
by
Patrícia P.O. Rocha
;
Juliana G. Giannetti
;
Marzia Pollazzon
;
Alessandro Iodice
;
Maria Marinelli
, et al.
소스
Molecular Syndromology
. 7:I-VI
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling
저자
by
Paul Kruszka
;
Seth I. Berger
;
Yupeng Wang
;
Maximilian Muenke
;
James C. Mullikin
, et al.
소스
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Open Access (OpenAIRE)
Scopus
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7 .
Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14
저자
by
Lucilene Arilho Ribeiro-Bicudo
;
Antonio Richieri-Costa
;
Silvia Figueiredo Costa
;
Carla Rosenberg
;
Bruno F. Gamba
.
소스
Molecular Syndromology
. 6:39-43
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings
저자
by
Antonio Richieri-Costa
;
Siulan Vendramini-Pittoli
;
Roseli Maria Zechi-Ceide
;
Lucilene Arilho Ribeiro-Bicudo
;
Camila Wenceslau Alvarez
, et al.
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