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Publications by Fabienne Giuliano

Mutation Update for the GPC3 Gene Involved in Simpson-Golabi-Behmel Syndrome and Review of the Literature

English

Is Interstitial 8p23 Microdeletion Responsible of 46,XY Gonadal Dysgenesis? One Case Report From Birth to Puberty

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

The Importance of Differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann Syndromes.

Journal of Medical Genetics

English

Autoimmune Lymphoproliferative Syndrome: An Update and Review of the Literature

Current Allergy and Asthma Reports

Respiratory Medicine

English

A Mutation Update for the FLNC Gene in Myopathies and Cardiomyopathies

English

Microbiome of the Paranasal Sinuses: Update and Literature Review

American Journal of Rhinology and Allergy

Otorhinolaryngology

English

A Review and Update on the Ophthalmic Implications for Susac Syndrome

Survey of Ophthalmology

English

Mutation Del 1,02kb in the CLN3 Gene and Extrapyramidal Syndrome

Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova

English

A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

BMC Medical Genetics

English

A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature

Clinical Pediatric Endocrinology

English

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Frontiers in Immunology

English