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Publications by Maude Guillot

A Case of “Abnormally Abnormal” Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation

Journal of Clinical Sleep Medicine

Respiratory Medicine

English

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A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports

Endocrine Abstracts

English

Case Report: Maple Syrup Urine Disease With a Novel DBT Gene Mutation

English

A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

Journal of Medical Case Reports

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

A Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene

Clinical Pediatric Endocrinology

English

Detection of a Novel Mutation in the CACNA1A Gene

Twin Research and Human Genetics

English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

Hypoxic Ventilatory Drive in Normal Man

Journal of Clinical Investigation

English