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1
المؤلفون: Hajira B. Koeller, Alice Abd El-Aleem, Marwa Shehab, Joseph G. Gleeson, Ghada M H Abdel-Salam, M. Elizabeth Ross, Yesim Ilkin, Maha S. Zaki, William B. Dobyns
المصدر: American Journal of Medical Genetics Part A. :939-944
مصطلحات موضوعية: Male, Cell Adhesion Molecules, Neuronal, Lissencephaly, Genes, Recessive, Nerve Tissue Proteins, Chromosomal translocation, Consanguinity, medicine.disease_cause, Translocation, Genetic, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Reelin, Cerebellar hypoplasia, Genetics (clinical), Brain Diseases, Extracellular Matrix Proteins, Mutation, Epilepsy, biology, Homozygote, Serine Endopeptidases, Brain, Receptor Protein-Tyrosine Kinases, Chromosome, Karyotype, medicine.disease, Chromosome Banding, Pedigree, Reelin Protein, Child, Preschool, biology.protein, Female
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2
المؤلفون: Yesim Ilkin, Kathleen W. Rao, Jason S. Simon, Edwin H. Cook, Christa Lese Martin, Daniel H. Geschwind, Ana Isabel Alvarez-Retuerto, M. Gladys Arreaza, Jacqueline A. Duvall, Cynthia M. Powell, Amy Whichello, Kristin Wilkes
المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (7)
مصطلحات موضوعية: Causes of autism, Candidate gene, Genotype, RBFOX1, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Translocation, Genetic, Cellular and Molecular Neuroscience, Exon, Intellectual Disability, medicine, Humans, Protein Isoforms, Heritability of autism, Genetic Predisposition to Disease, Autistic Disorder, Genetics (clinical), In Situ Hybridization, Fluorescence, Regulation of gene expression, Genetics, Chromosomes, Human, Pair 15, Epilepsy, Intron, RNA-Binding Proteins, medicine.disease, Psychiatry and Mental health, Child, Preschool, Cytogenetic Analysis, Autism, Female, RNA Splicing Factors, Chromosomes, Human, Pair 7
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3
المؤلفون: Victor V. Chizhikov, Richard Roberts, Linda L. Washburn, Kathleen J. Millen, Ekaterina Y. Steshina, Yesim Ilkin
المصدر: Mammalian genome : official journal of the International Mammalian Genome Society. 17(10)
مصطلحات موضوعية: Ataxia, Positional cloning, DNA Mutational Analysis, LIM-Homeodomain Proteins, Molecular Sequence Data, Biology, medicine.disease_cause, Frameshift mutation, Mice, Cerebellum, Genetics, medicine, Missense mutation, Animals, Amino Acid Sequence, Allele, Gene, Alleles, Homeodomain Proteins, Mutation, Sequence Homology, Amino Acid, Molecular biology, Null allele, Mice, Inbred C57BL, Disease Models, Animal, medicine.symptom, Dandy-Walker Syndrome, Transcription Factors
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4
المؤلفون: David H. Ledbetter, Andrew Wong, Christa Lese Martin, Yesim Ilkin, Konstantina Heretis, Eric J. Vallender, Bruce T. Lahn
المصدر: Genomics. 84(2)
مصطلحات موضوعية: Primates, animal structures, Transcription, Genetic, Centromere, Molecular Sequence Data, Gene Dosage, UniGene, Chromosome 9, Locus (genetics), Biology, Evolution, Molecular, Mice, Open Reading Frames, Genes, Duplicate, Gene Duplication, Gene duplication, Genetics, Animals, Humans, RNA, Messenger, Gene, Phylogeny, Segmental duplication, Gene Expression Profiling, fungi, Chromosome, Telomere, Blotting, Northern, Rats, Mutagenesis, Chromosomes, Human, Pair 2, Multigene Family, Chromosomes, Human, Pair 9