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Joanna Goes Castro Meira
Joanna Goes Castro Meira
在 uneb.br 的电子邮件经过验证
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引用次数
引用次数
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Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
LC Caires-Júnior, E Goulart, US Melo, BHS Araujo, L Alvizi, ...
Nature communications 9 (1), 475, 2018
1252018
Genetics and management of the patient with orofacial cleft
LA Brito, JGC Meira, GS Kobayashi, MR Passos-Bueno
Plastic surgery international 2012, 2012
842012
Investigation of 15q11-q13, 16p11. 2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy
DP Moreira, K Griesi-Oliveira, AL Bossolani-Martins, NCV Lourenço, ...
PLoS One 9 (9), e107705, 2014
322014
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, ...
Genetics in Medicine 22 (7), 1215-1226, 2020
262020
Políticas de saúde pública aplicadas à genética médica no Brasil
JGC Meira, AX Acosta
Revista de Ciências médicas e biológicas 8 (2), 189-197, 2009
192009
Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review
JGC Meira, BS Magalhães, IBB Ferreira, DF Tavares, GS Kobayashi, ...
American Journal of Medical Genetics Part A 185 (5), 1569-1574, 2021
92021
Cytogenetic abnormalities in couples with a history of primary and secondary recurrent miscarriage: a Brazilian Multicentric Study
MB Cavalcante, M Sarno, G Gayer, J Meira, M Niag, K Pimentel, I Luz, ...
The Journal of Maternal-Fetal & Neonatal Medicine 33 (3), 442-448, 2020
72020
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
TA Piñero, O Soukarieh, M Rolain, K Alvarez, F López-Köstner, ...
Familial Cancer 19, 323-336, 2020
62020
Diagnosis of atelosteogenesis type i suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism
JGC Meira, MAC Sarno, ÁCO Faria, GL Yamamoto, DR Bertola, ...
Revista Brasileira de Ginecologia e Obstetrícia/RBGO Gynecology and …, 2018
42018
Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
LC Caires-Júnior, E Goulart, US Melo, BHS Araujo, L Alvizi, ...
Nature Communications 9 (1), 1114, 2018
42018
Case of 15q26-qter deletion associated with a Prader-Willi phenotype
JF Dos Santos, AX Acosta, GG Scheibler, PML Pitanga, ES Alves, ...
European Journal of Medical Genetics 63 (8), 103955, 2020
22020
Genetics of Cleft Lip and Cleft Palate: Perspectives in Surgery Management and Outcome
GS Kobayashi, LA Brito, JGC Meira, L Alvizi, MR Passos-Bueno
Cleft Lip and Palate Treatment: A Comprehensive Guide, 25-35, 2018
22018
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
A Nunes, J Meira, C Cunha, M Veiga, APS Magalhães, DR Málaga, ...
Journal of Inborn Errors of Metabolism and Screening 8, 2020
12020
Estudo clínico e molecular em pacientes com fissuras orais para avaliação do efeito fenotípico de variantes do IRF6 e estimativa da contribuição genética nas fissuras palatinas
JGC Meira
Universidade de São Paulo, 2014
12014
Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified
F Kubaski, D Miguel, D Pereira, DR Malaga, AC Brusius-Facchin, ...
Molecular Genetics and Metabolism 129 (2), S93, 2020
2020
Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases
J Amiel, K Mishra, L Castilla, KK Selmer, T Barak, S Yang, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1527-1528, 2019
2019
Diagnóstico de atelosteogênese tipo I sugerido por ultrassonografia fetal e fenótipo paterno atípico com mosaicismo
JGC Meira, MAC Sarno, ÁCO Faria, GL Yamamoto, DR Bertola, ...
Revista Brasileira de Ginecologia e Obstetrícia 40 (9), 570-575, 2018
2018
Next generation sequencing as a confirmatory diagnostic tool in a Brazilian Skeletal Dysplasia Tertiary Center
WAR Baratela, GL Yamamoto, LC Testai, R Honjo, LAN Oliveira, ...
Poster Abstracts, 2016
2016
Complexo OEIS e diabetes Mellitus materna: uma associação?
MCM Faleiros, JGC Meira, JM Pina Neto, FS Ramalho, VEF Ferraz
Revista Médica de Minas Gerais 19 (2), 68, 2009
2009
Trissomia 18 com anencefalia isolada: a indicação da análise citogenética
JGC Meira, JM Pina Neto, VEF Ferraz, FS Ramalho, MCM Faleiros
Revista Médica de Minas Gerais 19 (2), 53, 2009
2009
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