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1 . Academic Journal
Rothmund-Thomson syndrome, a disorder far from solved
저자
by
Davi Jardim Martins
;
Ricardo Di Lazzaro Filho
;
Debora Romeo Bertola
;
Nícolas Carlos Hoch
.
소스
Frontiers in Aging, Vol 4 (2023)
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6 . Academic Journal
Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool
저자
by
Lucas Vieira Lacerda Pires
;
Rogério Lemos Ribeiro
;
Adriana Modesto de Sousa
;
Bianca Domit Werner Linnenkamp
;
Sue Ellen Pontes
, et al.
소스
Arquivos de Neuro-Psiquiatria, Vol 79, Iss 11, Pp 950-956 (2021)
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7 . Academic Journal
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
저자
by
Danielle de Paula Moreira
;
Angela May Suzuki
;
André Luiz Teles e Silva
;
Elisa Varella-Branco
;
Maria Cecília Zorél Meneghetti
, et al.
소스
Frontiers in Cellular Neuroscience, Vol 15 (2022)
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7 . Academic Journal
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism
저자
by
Joanna Goes Castro Meira
;
Manoel Alfredo Curvelo Sarno
;
Ágatha Cristhina Oliveira Faria
;
Guilherme Lopes Yamamoto
;
Débora Romeo Bertola
, et al.
소스
Revista Brasileira de Ginecologia e Obstetrícia, Vol 40, Iss 9, Pp 570-575 (2018)
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7 . Academic Journal
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
저자
by
Carla Sustek D’Angelo
;
Monica Castro Varela
;
Claudia Irene Emílio de Castro
;
Paulo Alberto Otto
;
Ana Beatriz Alvarez Perez
, et al.
소스
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-18 (2018)
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7 . Academic Journal
Natural history of 39 patients with Achondroplasia
저자
by
Jose Ricardo Magliocco Ceroni
;
Diogo Cordeiro de Queiroz Soares
;
Larissa de Cássia Testai
;
Rachel Sayuri Honjo Kawahira
;
Guilherme Lopes Yamamoto
, et al.
소스
Clinics, Vol 73, Iss 0 (2018)
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7 . Academic Journal
Tegumentary manifestations of Noonan and Noonan-related syndromes
저자
by
Caio Robledo D'Angioli Costa Quaio
;
Tatiana Ferreira de Almeida
;
Amanda Salem Brasil
;
Alexandre C. Pereira
;
Alexander A. L. Jorge
, et al.
소스
Clinics, Vol 68, Iss 8, Pp 1079-1083 (2013)
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7 . Academic Journal
A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome
저자
by
Caio Robledo D'Angioli Costa Quaio
;
Tatiana Ferreira de Almeida
;
Lilian Maria José Albano
;
Israel Gomy
;
Debora Romeo Bertola
, et al.
소스
Clinics, Vol 67, Iss 8, Pp 917-921 (2012)
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7 . Academic Journal
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
저자
by
Roberta Lelis Dutra
;
Patrícia de Campos Pieri
;
Ana Carolina Dias Teixeira
;
Rachel Sayuri Honjo
;
Debora Romeo Bertola
, et al.
소스
Clinics, Vol 66, Iss 6, Pp 959-964 (2011)
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7 . Academic Journal
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
저자
by
Kyungsoo Ha
;
Priya Anand
;
Jennifer A. Lee
;
Julie R. Jones
;
Chong Ae Kim
, et al.
소스
Genes, Vol 7, Iss 11, p 96 (2016)
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