Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by K. Sperling
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
Nibrin Functions in Ig Class-Switch Recombination
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
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
