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Publications by Donald S. Urquhart
A Case of “Abnormally Abnormal” Hypoxic Ventilatory Responses: A Novel NPARM PHOX 2B Gene Mutation
Journal of Clinical Sleep Medicine
Pulmonary
Neurology
Respiratory Medicine
Related publications
A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports
Endocrine Abstracts
Case Report: Maple Syrup Urine Disease With a Novel DBT Gene Mutation
BMC Pediatrics
Child Health
Pediatrics
Perinatology
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)
Tohoku Journal of Experimental Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
A Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Detection of a Novel Mutation in the CACNA1A Gene
Twin Research and Human Genetics
Child Health
Pediatrics
Gynecology
Perinatology
Obstetrics
Genetics
Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report
BMC Pediatrics
Child Health
Pediatrics
Perinatology
A Novel POLG Gene Mutation in a Patient With SANDO
Journal of Experimental and Integrative Medicine
Alternative Medicine
Complementary
Hypoxic Ventilatory Drive in Normal Man
Journal of Clinical Investigation
Medicine