Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Wilson H-Y Lo

Corrigendum: Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

Nature Genetics

English

Related publications

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Journal of Medical Genetics

English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Multidisciplinary

English

Carrier Frequency of the GJB2 Mutations That Cause Hereditary Hearing Loss in the Japanese Population

Journal of Human Genetics

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology

English

Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome

Nature Genetics

English

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English