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Publications by Scott Perry

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

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

Pediatric Research

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CEP152 Is a Genome Maintenance Protein Disrupted in Seckel Syndrome

Nature Genetics

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Mutations Linked to Paternal Age

Science-Business eXchange

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

Journal of Medical Genetics

English