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Génétique Médicale & Génomique Fonctionelle | Researchclopedia

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Génétique Médicale & Génomique Fonctionelle

Marseillefacility

2,209

Works

173,626

Citations

170

h-index

Top Research Topics

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Top Researchers

Alexis Brice Centre National de la Recherche Scientifique

1,186 works115,794 citationsh-index: 154

Recent Research

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão,Amandine Santini,et al.

20260 citations

Congenital heart defects research

RNA Research and Splicing

Prenatal Screening and Diagnostics

RNA modifications and cancer

Muscle Physiology and Disorders

Genetic Neurodegenerative Diseases

Hereditary Neurological Disorders

Genetic factors in colorectal cancer

Nuclear Structure and Function

Sven Cichon Forschungszentrum Jülich

777 works101,642 citationsh-index: 130

Pierre Fenaux Université Paris Cité

1,816 works88,883 citationsh-index: 130

J. Beckmann Harvard University

882 works78,910 citationsh-index: 123

Marion Leboyer Inserm

1,245 works77,925 citationsh-index: 130

Arnold Münnich Délégation Paris 5

958 works67,403 citationsh-index: 129

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen,Nazim Rabouhi,et al.

20260 citations

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

Hendrikus J. van Heesbeen,Nazim Rabouhi,et al.

20260 citations

Systematic or Targeted Molecular Screening of SHOX Gene Variations in Children with Idiopathic Short Stature?

Romee Pouliquen,Sébastien Schmitt,et al.

20260 citations

PO 179 Clinical whole-exome sequencing identified de novo heterozygous intronic variants in the STXBP1 gene, which are associated with epilepsy in Moroccan families

20260 citations

PO 178 A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome 3 in a morrocan family and literature review

20260 citations