Jorge Diogo Da Silva

centro de genética médica dr

H指数:12

被引数:681

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FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition

FRAXE相关智力障碍：对一种诊断不足疾病的临床与分子学见解

Journal of Human Genetics

IF2.5

2025-10-140

PRE

Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3

延长寿命的基因操作在MJD/SCA3动物模型中的差异效应

MECHANISMS OF AGEING AND DEVELOPMENT

IF5.1

2025-06-010

OAAI

Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating

JOURNAL OF MEDICAL GENETICS

IF3.7

2025-02-160

PRE

Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3

牛磺熊去氧胆酸在脊髓小脑共济失调3型临床前模型中的糖皮质激素受体依赖性治疗效果

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2024-03-015

OAAI

Duarte-Silva, Sara; Silva, Jorge Diogo Da; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana S.; Nogueira-Goncalves, Goncalo; Fernandes, Henrique S.; Oliveira, Stephanie; Ferreira-Fernandes, Ana Rita; Rodrigues, Fernando; Pereira-Sousa, Joana; Vilasboas-Campos, Daniela; Guerreiro, Sara; Campos, Jonas; Meireles-Costa, Liliana; Rodrigues, Cecilia M. P.; Cabantous, Stephanie; Sousa, Sergio F.; Lima, Manuela; Teixeira-Castro, Andreia; Maciel, Patricia

Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V

PEDIATRIC RESEARCH

IF3.1

2023-12-053

PRE

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

BIOMEDICINES

IF3.9

2022-12-210

OAAI

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

BIOMEDICINES