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Publications by B. Gentilin

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 De Novo Deletion in a Patient With Van Den Ende-Gupta Syndrome

Molecular Syndromology

English

Related publications

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

American Journal of Human Genetics

English

Phenotypic and Genetic Characterization of a Patient With a De Novo Interstitial 14q24.1q24.3 Deletion

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

A Germline or De Novo Mutation in Two Families With Gaucher Disease: Implications for Recessive Disorders

European Journal of Human Genetics

English

Cryptic 5q Deletion in a Patient With Myelodysplastic Syndrome

British Journal of Haematology

English

Acute Dystonia in a Patient With 22q11.2 Deletion Syndrome

English

Long-Term Follow-Up of a Patient With 5q31.3 Microdeletion Syndrome and the Smallest De Novo 5q31.2q31.3 Deletion Involving PURA

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

CHARGE Syndrome Associated With De Novo (I1460Rfs*15) Frameshift Mutation of CHD7 Gene in a Patient With Arteria Lusoria and Horseshoe Kidney

Experimental and Therapeutic Medicine

Cancer Research

English

A De Novo 10.1-Mb 3p25 Terminal Deletion Including SETD5 in a Patient With Ptosis and Psychomotor Retardation

Pediatrics and Neonatology

English

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Circulation Research

Cardiovascular Medicine

English