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Publications by Max Drabkin

Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred

BMC Medical Genetics

English

Related publications

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

English

Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Novel Homozygous PANK2 Mutation Identified in a Consanguineous Chinese Pedigree With Pantothenate Kinase-Associated Neurodegeneration

Biomedical Reports

Molecular Biology

English

Recurrent Inflammatory Disease Caused by a Heterozygous Mutation in CD48

Journal of Allergy and Clinical Immunology

English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

Molecular Biology

English

A Large Turkish Kindred With Syndactyly Type II (Synpolydactyly). 2. Homozygous Phenotype?

Journal of Medical Genetics

English

No Live Individual Homozygous for a Novel Endoglin Mutation Was Found in a Consanguineous Arab Family With Hereditary Haemorrhagic Telangiectasia

Journal of Medical Genetics

English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English