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1

ELMO2 biallelic pathogenic variants in a patient with gingi..:

Perrone, Eduardo ; Coelho, Antonio Victor Campos ; Virmond, Luiza do Amaral...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

2

Risk factors for critical and complex congenital heart dise..:

Lopes, Selma Alves Valente do Amaral ; Guimarães, Isabel Cristina Brito ; Costa, Sofia Fontes Oliva...
Progress in Pediatric Cardiology. 68 (2023) - p. 101612 , 2023

Link: https://doi.org/10.1016/..

3

Tendência temporal da prevalência e mortalidade infantil da..:

Fernandes, Qeren Hapuk R. Ferreira ; Paixão, Enny S. ; Costa, Maria da Conceição N....
Ciência & Saúde Coletiva. 28 (2023) 4 - p. 969-979 , 2023

Link: https://doi.org/10.1590/..

4

Functional status of individuals with osteogenesis imperfec..:

Carvalho, Patricia de Abreu Farias ; Regis, Taiane Sousa ; Faiçal, Adriana Virgínia Barros...
Jornal de Pediatria. 99 (2023) 1 - p. 94-98 , 2023

Link: https://doi.org/10.1016/..

5

Respiratory function of children and adolescents with osteo..:

Carvalho, Patricia de Abreu Farias ; Regis, Taiane Sousa ; Faiçal, Adriana Virgínia Barros..
Revista Paulista de Pediatria. 41 (2023) - p. , 2023

Link: https://doi.org/10.1590/..

6

Temporal trends in prevalence and infant mortality of birth..:

Fernandes, Qeren Hapuk R. Ferreira ; Paixão, Enny S. ; Costa, Maria da Conceição N....
Ciência & Saúde Coletiva. 28 (2023) 4 - p. 969-979 , 2023

Link: https://doi.org/10.1590/..

7

Socioemotional Status of Children With Uterine Exposure to ..:

Barros Faiçal, Adriana Virgínia ; de Oliveira, Juliana Menezes Gomes Cabral ; Andrade, Nara C....
Pediatric Neurology. 103 (2020) - p. 86-88 , 2020

Link: https://doi.org/10.1016/..

8

Hearing Loss in Mucopolysaccharidosis:

Bicalho, Cibele Gomes ; de Araújo Leão, Emília Katiane Embiruçu ; de Andrade, Álvaro Muiños.
International Archives of Otorhinolaryngology. 25 (2020) 3 - p. e386-e391 , 2020

Link: https://doi.org/10.1055/..

9

Identificação de doenças genéticas na Atenção Primária à Sa..:

Santos, Cleyton Soares dos ; Kishi, Renata Giannecchini Bongiovanni ; Costa, Daniel Lima Gomes da...
Revista Brasileira de Medicina de Família e Comunidade. 15 (2020) 42 - p. 2347 , 2020

Link: https://doi.org/10.5712/..

10

Case of 15q26-qter deletion associated with a Prader-Willi ..:

Santos, Jéssica Fernandes dos ; Acosta, Angelina Xavier ; Scheibler, Gabriela Gayer...
European Journal of Medical Genetics. 63 (2020) 8 - p. 103955 , 2020

Link: https://doi.org/10.1016/..

11

Population medical genetics: translating science to the com..:

Giugliani, Roberto ; Bender, Fernanda ; Couto, Rowena...
Genetics and Molecular Biology. 42 (2019) 1 suppl 1 - p. 312-320 , 2019

Link: https://doi.org/10.1590/..

12

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1..:

Cerqueira, Taíse Lima de Oliveira ; Ramos, Yanne Rocha ; Strappa, Giorgia Bruna...
Archives of Endocrinology and Metabolism. 62 (2018) 4 - p. 466-471 , 2018

Link: https://doi.org/10.20945..

13

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ult..:

Meira, Joanna Goes Castro ; Sarno, Manoel Alfredo Curvelo ; Faria, Ágatha Cristhina Oliveira...
Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics. 40 (2018) 9 - p. 570-576 , 2018

Link: https://doi.org/10.1055/..

14

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotra..:

Ludwig, Nataniel Floriano ; Velho, Renata Voltolini ; Sperb-Ludwig, Fernanda...
The International Journal of Biochemistry & Cell Biology. 92 (2017) - p. 90-94 , 2017

Link: https://doi.org/10.1016/..

15

Mucopolysaccharidosis type VI on enzyme replacement therapy..:

Horovitz, Dafne D.G. ; Acosta, Angelina Xavier ; de Rosso Giuliani, Liane.
Molecular Genetics and Metabolism Reports. 5 (2015) - p. 19-25 , 2015

Link: https://doi.org/10.1016/..

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