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Publications by Jill Beis

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to McPh4

American Journal of Human Genetics

English

Related publications

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of McPh4 to Chromosome 15

American Journal of Human Genetics

English

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus

Scientific Reports

Multidisciplinary

English

Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Journal of Medical Genetics

English

Human Mutations in NDE1 Cause Extreme Microcephaly With Lissencephaly

American Journal of Human Genetics

English

Three Novel AVPR2 Mutations in Three Japanese Families With X-Linked Nephrogenic Diabetes Insipidus

Pediatric Research

English

CEP152 Is a Genome Maintenance Protein Disrupted in Seckel Syndrome

Nature Genetics

English

Mutations Linked to Paternal Age

Science-Business eXchange

English

Identification of Eight Novel VEGFR-3 Mutations in Families With Primary Congenital Lymphoedema

Journal of Medical Genetics

English