Unsuspected mutation in a family with congenital adrenal hyperplasia

Cutaneous diphtheria in a child returning from visiting friends & relatives in Burkina Faso: a case report.

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Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study.

ESMO open·2025

Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context.

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Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica·2012

Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.

Clinical genetics·2012

Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes.

International journal of andrology·2010

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

HLA·2026

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HLA·2026

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Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

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Unsuspected mutation in a family with congenital adrenal hyperplasia

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