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Publications by M. Ghani-Kakhki
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly GeneMCPH1Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
Molecular Syndromology
Genetics
Related publications
Comprehensive Review on the Molecular Genetics of Autosomal Recessive Primary Microcephaly (MCPH)
Genetical Research
Medicine
Genetics
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of McPh4 to Chromosome 15
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
American Journal of Human Genetics
Genetics
Functional Consequences of Tumorigenic Missense Mutations in the Amino-Terminal Domain of Smad4
Oncogene
Cancer Research
Genetics
Molecular Biology
Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness
Neurobiology of Disease
Neurology
A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34
American Journal of Human Genetics
Genetics
