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Centro de Genética Clínica | Researchclopedia

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Centro de Genética Clínica

Portofacility

1,922

Works

76,670

Citations

118

h-index

Top Research Topics

Metabolism and Genetic Disorders Sperm and Testicular Function Lysosomal Storage Disorders Research

Top Researchers

Eric Van Cutsem Hebron University

1,824 works173,522 citationsh-index: 174

Recent Research

The p.Ala1035Val variant in Niemann–Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect

Ana Paula Alegretti,Tatiane Grazieli Hammerschmidt,et al.

20260 citations

Prenatal Screening and Diagnostics

Reproductive Biology and Fertility

Mitochondrial Function and Pathology

Genomic variations and chromosomal abnormalities

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cellular transport and secretion

Genetic Neurodegenerative Diseases

1,673 works104,051 citationsh-index: 141

George Perry Neurosciences Institute

1,519 works101,673 citationsh-index: 152

Neil Risch Kaiser Permanente

457 works67,857 citationsh-index: 124

Ãngel Carracedo Universidade da Coruña

1,267 works61,500 citationsh-index: 107

Robert J. Desnick Mount Sinai Health System

1,268 works45,658 citationsh-index: 111

Visual And Refractive Complaints In Spanish And Portuguese Population

Franch March de Ribot,Filipa C. Ferreira,et al.

20260 citations

MEIBOMIAN GLAND DYSFUNCTION (MGD) AND DRY EYE DISEASE (DED). IMPORTANCE OF INFLAMMATION AND GENETIC IN THE DIAGNOSIS AND FOLLOW-UP

Carlos Vergés,Francesc March de Ribot,et al.

20260 citations

THE EFFECT OF THE COVID-19 PANDEMIC ON EYE PRACTICES IN PORTUGAL

F. March de Ribot,Filipa C. Ferreira,et al.

20260 citations

Gene Expression Analysis In Tears Of Patients With Dry Eye Disease And Meibomian Gland Dysfunction (Ded-Mgd) After Treatmen With Intensive Pulsed Light (Ipl)

Jose Salgado Borges,Ana Gimenez,et al.

20260 citations

SUBJECTIVE AND OBJECTIVE COMPARISON OF TWO ADVANCED MONOFOCAL INTRAOCULAR LENSES

Anabela Borges,Isabel Ferreira,et al.

20260 citations