Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Y.H. Lim

390 Second-Hit, Post-Zygotic PMVKand MVD Mutations Cause Linear Porokeratosis

Journal of Investigative Dermatology

Molecular Biology

English

Related publications

Clonal Expansion of Second-Hit Cells With Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

Journal of Investigative Dermatology

Molecular Biology

English

Linear Porokeratosis

Archives of Dermatology

English

The Novel Mevalonate Kinase Mutations Cause Disseminated Superficial Actinic Porokeratosis

British Journal of Dermatology

English

LB1539 Genotype-First Phenotyping of 32 Patients With Post-Zygotic GNAQ or GNA11 Mutations

Journal of Investigative Dermatology

Molecular Biology

English

DEPDC5 Takes a Second Hit in Familial Focal Epilepsy

Journal of Clinical Investigation

English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English

Mutations in SOX2 Cause Anophthalmia

Nature Genetics

English

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English