Concepedia

L. Tamburino

LT

6

Publications

159

Citations

6

H-Index

1998

Active since

Affiliations

Columbia University(Current)

Vall d'Hebron Hospital Universitari

L. Tamburino is an author at Columbia University specializing in medicine, genetics, and pathology.

Top concepts

GeneticsMedicinePathologyMolecular GeneticsMolecular DiagnosticsGenomicsAndrologyFertilityGynecologyImmunology

Publications per year

1998–2017

6

Publications

6

Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility

L. Tamburino, Antonino Guglielmino, Erin Venti et al. · Reproductive BioMedicine Online · 2008 · 54 citations · Full text

Infertility, Andrology, Fertility +12

Molecular genetic analysis of McArdle's disease in Spanish patients

Antoni L. Andreu, Claudio Bruno, Josep Gámez et al. · Neurology · 1998 · 26 citations

Spanish Families, Mendelian Disorder, Genetic Disorder +13

A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

Claudio Bruno, L. Tamburino, Noriko Kawashima et al. · Neuromuscular Disorders · 1999 · 24 citations

Molecular characterization of McArdle’s disease in two large Finnish families

Claudio Bruno, Mervi Löfberg, L. Tamburino et al. · Journal of the Neurological Sciences · 1999 · 24 citations · Full text

Engineering, Genetics, Genetic Epidemiology +19

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

Antoni L. Andreu, Claudio Bruno, L. Tamburino et al. · Neuromuscular Disorders · 1999 · 18 citations

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