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Publications by Joshua J. Michel

Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay

Journal of Clinical Investigation

English

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Human Mutations in NDE1 Cause Extreme Microcephaly With Lissencephaly

American Journal of Human Genetics

English

The Role of Sterol-C4-Methyl Oxidase in Epidermal Biology

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Molecular Biology

English

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

English

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American Journal of Human Genetics

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Joubert Syndrome: A Rare Cause for Developmental Delay

Journal of Medical Science And clinical Research

English

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

Nature Genetics

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Psoriasiform Lichenoid Dermatitis in the Springer Spaniel

Veterinary Pathology

English

The Prevalence of Mutations in the Gene Encoding Filaggrin in the Population of Polish Patients With Atopic Dermatitis

Postepy Dermatologii I Alergologii

English