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Publications by Michael E. Zwick
Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay
Journal of Clinical Investigation
Medicine
Bystro: Rapid Online Variant Annotation and Natural-Language Filtering at Whole-Genome Scale
Genome Biology
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Human Mutations in NDE1 Cause Extreme Microcephaly With Lissencephaly
American Journal of Human Genetics
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The Role of Sterol-C4-Methyl Oxidase in Epidermal Biology
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Cell Biology
Molecular Biology
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
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Joubert Syndrome: A Rare Cause for Developmental Delay
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Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
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Psoriasiform Lichenoid Dermatitis in the Springer Spaniel
Veterinary Pathology
Veterinary
The Prevalence of Mutations in the Gene Encoding Filaggrin in the Population of Polish Patients With Atopic Dermatitis
Postepy Dermatologii I Alergologii
Dermatology
Allergy
Immunology