M. José Coll

Statistics

Publications

Citations

205

H-Index

Active since

1997

Affiliations

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer(Current)

Corporació Sanitària Parc Taulí

Centre for Biomedical Network Research on Rare Diseases

M. José Coll is an author at Consorci Institut D'Investigacions Biomediques August Pi I Sunyer specializing in human genetics, molecular genetics, and life sciences.

Publications per year

1997–2014

Publications

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female

Adriana Rodríguez‐Marí, M. José Coll, Amparo Chabás · Human Mutation · 2003 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed et al. · Molecular Genetics and Metabolism · 2014 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis

Laura Gort, M. Reyes Granell, G. Sanz Fernández et al. · Prenatal Diagnosis · 2012 · 31 citations · Full text

Medicine, Obstetrics, Pathology +12

X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds

Montserrat Ruíz, M. José Coll, T. P�mpols et al. · American Journal of Medical Genetics · 1998 · 22 citations

Life Sciences, Endocrinology, Neurology +16

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

Montserrat Ruíz, M. José Coll, Teresa Pàmpols et al. · Prenatal Diagnosis · 1997 · 15 citations

Medicine, Biochemistry, Molecular Genetics +15

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