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Publications by Syeda Khushbakht Kazmi
Comprehensive Review on the Molecular Genetics of Autosomal Recessive Primary Microcephaly (MCPH)
Genetical Research
Medicine
Genetics
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Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of McPh4 to Chromosome 15
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A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34
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Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia
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Two Missense Mutations in the Primary Autosomal Recessive Microcephaly GeneMCPH1Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin
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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
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Autosomal Recessive Brachyolmia
Molecular Analysis of DMP1 Mutants Causing Autosomal Recessive Hypophosphatemic Rickets
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Autosomal Recessive Bestrophinopathy
