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Science, ISSN 0036-8075, 11/2002, Volume 298, Issue 5599, pp. 1779 - 1781
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2015, Volume 56, Issue 2, pp. 1261 - 1266
PURPOSE. The object of this study is to identify the underlying genetic defect in a consanguineous Tunisian family affected with autosomal recessive congenital... 
Microcephaly | Mental retardation | Congenital cataract | microcephaly | mental retardation | MOLECULAR-GENETICS | AUTOSOMAL RECESSIVE CATARACT | OPHTHALMOLOGY | congenital cataract | ABSENCE | NONSENSE MUTATION | PAKISTANI FAMILIES
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2008, Volume 83, Issue 6, pp. 684 - 691
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2010, Volume 107, Issue 1, pp. 258 - 263
We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive... 
Haplotypes | Polymerase chain reaction | Phenotypes | Intellectual disability | Genomics | DNA | Medical genetics | Amino acids | Genetic mutation | Sequencing | Genotyping and mapping | Snp arrays | Homozygosity | Amish | Transmembrane and coiled-coil domains 1 gene | transmembrane and coiled-coil domains 1 gene | SNP arrays | PHOSPHORYLATION | GENETICS | MULTIDISCIPLINARY SCIENCES | homozygosity | genotyping and mapping | Abnormalities, Multiple - pathology | Fetus - abnormalities | Frameshift Mutation | Humans | Child, Preschool | Molecular Sequence Data | Male | Musculoskeletal Abnormalities - pathology | Fetus - physiology | Intellectual Disability - genetics | Young Adult | Ethnic Groups - genetics | DNA Mutational Analysis | Base Sequence | Adult | Craniofacial Abnormalities - pathology | Female | Membrane Proteins - metabolism | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Amino Acid Sequence | Tooth Abnormalities - genetics | Membrane Proteins - genetics | Intellectual Disability - pathology | Genes, Recessive | Syndrome | Neuropsychological Tests | Pregnancy | Phenotype | Pedigree | Musculoskeletal Abnormalities - genetics | Adolescent | Tooth Abnormalities - pathology | Ohio | Gene mutations | Genetic aspects | Research | Single nucleotide polymorphisms | Health aspects | Mental retardation | Risk factors | Biological Sciences
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 11/2006, Volume 67, Issue 9, pp. 1713 - 1714
Journal Article
Journal Article
Journal Article