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Publications by D.E. McCloskey
A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome
American Journal of Medical Genetics, Part A
Genetics
Related publications
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase
International Journal of Molecular Sciences
Organic Chemistry
Molecular Biology
Theoretical Chemistry
Inorganic Chemistry
Computer Science Applications
Spectroscopy
Medicine
Catalysis
Physical
A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome
European Journal of Human Genetics
Genetics
Polyamine Homeostasis in Snyder-Robinson Syndrome
Medical Sciences
X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation
Endocrine Abstracts
Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome
European Journal of Human Genetics
Genetics
Prune Belly Syndrome in Surviving Males Can Be Caused by Hemizygous Missense Mutations in the X-Linked Filamin a Gene
BMC Medical Genetics
Genetics
A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
Multidisciplinary
A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia
Dermatology
Dermatology
Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
American Journal of Human Genetics
Genetics
