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Nature genetics, ISSN 1061-4036, 09/2016, Volume 48, Issue 9, pp. 1071 - 1079
Genetics, Population | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Disease - genetics | Humans | Asian Continental Ancestry Group - genetics | Genes, Recessive | Middle East | Homozygote | Exome - genetics | Genetic Markers - genetics | Consanguinity | Genetic Variation - genetics | Genome, Human | Human Migration | Cohort Studies | Genetic susceptibility | Exome sequencing | Arabs | Genetic research | Genotype | Genetic aspects | Research | Health aspects | Identification and classification | Population genetics | Methods | Consortia | Population | Genomes | Hominids | Index Medicus | homozygous | inbreeding coefficient | selective pressure | Mutational load | admixture | runs of homozygosity | consanguineous | derived allele frequency | introgression | whole exome sequencing
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The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel
Human genetics, ISSN 0340-6717, 11/2010, Volume 128, Issue 5, pp. 473 - 479
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Maple Syrup Urine Disease - genetics | Humans | Genetic Diseases, Inborn - genetics | Hypoparathyroidism - genetics | Christianity | Genetic Diseases, Inborn - epidemiology | Genes, Recessive | Intellectual Disability - genetics | Epidermolysis Bullosa - genetics | Leukodystrophy, Metachromatic - genetics | Islam | Israel - epidemiology | Xanthomatosis, Cerebrotendinous - genetics | Albinism - genetics | Arabs - genetics | Ataxia Telangiectasia - genetics | Bardet-Biedl Syndrome - genetics | Mucopolysaccharidosis I - genetics | Leukodystrophy, Globoid Cell - genetics | Mutation | Druses | Deafness | Genetic disorders | Index Medicus
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Genome Biology, ISSN 1474-7596, 09/2011, Volume 12, Issue 9, pp. R89 - R89
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Exons | Humans | DNA Mutational Analysis - methods | Genetic Testing - methods | INDEL Mutation | Jews - genetics | Inheritance Patterns | Founder Effect | Cadherins - genetics | Genetics, Population | Genetic Predisposition to Disease | Gene Library | Membrane Proteins - genetics | Extracellular Matrix Proteins - genetics | Gene Frequency | Hearing Loss - epidemiology | Computational Biology | Myosins - genetics | Hearing Loss - genetics | Middle East - epidemiology | Animals | Pedigree | Alleles | Arabs - genetics | Mice | Genome, Human | GPI-Linked Proteins - genetics | Index Medicus | Research
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American journal of human genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, pp. 371 - 375
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Medical genetics | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Amino Acid Sequence | Neurons - pathology | Humans | Axons - metabolism | Molecular Sequence Data | Infant | Intellectual Disability - complications | Male | Chromosome Mapping | GTPase-Activating Proteins - chemistry | Mutation - genetics | Open Reading Frames - genetics | Syndrome | Intellectual Disability - genetics | Carrier Proteins - genetics | Animals | Pedigree | Cell Shape | Carrier Proteins - chemistry | Female | Epilepsies, Partial - genetics | Mice | GTPase-Activating Proteins - genetics | Epilepsies, Partial - complications | Demographic aspects | Gene mutations | Epilepsy | Analysis | Arabs | Articulation disorders | Genetic aspects | Research | Gene expression | Population genetics | Proteins | Genes | Genetics | Mutation | Developmental disabilities | Index Medicus | Report
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American journal of human genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 17 - 25
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Human | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Population genetics, reproduction patterns | Genetics, Population | Humans | Asian Continental Ancestry Group - genetics | Male | Linkage Disequilibrium | Names | Homozygote | Qatar | Arabs - genetics | Female | Consanguinity | Polymorphism, Single Nucleotide | African Continental Ancestry Group - genetics | Principal Component Analysis | Muslims | Cross-cousin marriage | Evaluation | Analysis | Genetic aspects | Research | Single nucleotide polymorphisms | Social aspects | Population genetics | Genotype & phenotype | Genetic diversity | Marriage | Genomics | Deoxyribonucleic acid--DNA | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 2002, Volume 70, Issue 3, pp. 758 - 762
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Medical sciences | Aminoacid disorders | European Continental Ancestry Group - genetics | Introns - genetics | Oxidoreductases - genetics | Gene Frequency | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Exons - genetics | Continental Population Groups - genetics | Israel - ethnology | Jews - genetics | Founder Effect | Ghana - ethnology | Haplotypes - genetics | Homozygote | Methylenetetrahydrofolate Dehydrogenase (NAD+) | Arabs - genetics | Polymorphism, Genetic - genetics | African Continental Ancestry Group - genetics | Japan - ethnology | Africans | Genetic aspects | Research | Israelis | Human population genetics | Japanese | Genetic polymorphisms | folic acid | hyperhomocysteinemia | 5,10-methylenetetrahydrofolate reductase | Index Medicus | Report
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American journal of human genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 347 - 357
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exons | Muscle Weakness - diagnosis | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Endoplasmic Reticulum Stress - genetics | Muscle Weakness - genetics | Exome | Rhabdomyolysis - diagnosis | Base Sequence | Gene Deletion | Female | Child | Arrhythmias, Cardiac - genetics | European Continental Ancestry Group - genetics | Hispanic Americans - genetics | Homozygote | Pedigree | Rhabdomyolysis - genetics | Alleles | Arabs - genetics | Golgi Apparatus - metabolism | Arrhythmias, Cardiac - diagnosis | Golgi Apparatus - genetics | Genetic aspects | Rhabdomyolysis | Arrhythmia | Gene mutations | Observations | Atrophy, Muscular | Musculoskeletal diseases | Genetics | Muscular system | Mutation | Index Medicus | Report
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European journal of human genetics : EJHG, ISSN 1018-4813, 04/2010, Volume 18, Issue 4, pp. 407 - 413
Protein modeling | Deafness | DFNB | Hearing | Homozygosity mapping | Mutation | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Otorhinolaryngology. Stomatology | Non tumoral diseases | Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Association Studies | Membrane Proteins - genetics | Humans | Arabs | Male | Chromosome Mapping | Chromosomes, Human, Pair 17 - genetics | Hearing Loss - genetics | Chromosomes, Human, Pair 2 - genetics | Chromosomes, Human, Pair 9 - genetics | Homozygote | Phenotype | Pedigree | Polymorphism, Single Nucleotide - genetics | Female | Consanguinity | Chromosomes, Human, Pair 12 - genetics | Chromosomes, Human, Pair 14 - genetics | Phenotypes | Genomics | Families & family life | Single-nucleotide polymorphism | Gene deletion | Hearing impairment | Gene expression | Hearing loss | Human subjects | Parents & parenting | Cyclin-dependent kinase inhibitor p21 | Clonal deletion | Alleles | Population | Genetics | Children | Gene mapping | Arrays | Chromosomes | Siblings | Index Medicus | mutation | hearing | deafness | protein modeling | homozygosity mapping
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Blood cells, molecules, & diseases, ISSN 1079-9796, 06/2013, Volume 51, Issue 1, pp. 22 - 26
BCL11A | Haplotype | Sickle cell | Fetal hemoglobin | Life Sciences & Biomedicine | Hematology | Science & Technology | Haplotypes | Humans | Middle Aged | Child, Preschool | Genes, myb | GTP-Binding Proteins - genetics | Young Adult | Adult | Nuclear Proteins - genetics | Child | Peptide Elongation Factors - genetics | Fetal Hemoglobin - metabolism | Promoter Regions, Genetic | HSP70 Heat-Shock Proteins - genetics | Hemoglobin, Sickle - genetics | Locus Control Region | Transcription Factors - genetics | Sequence Analysis, DNA | beta-Globins - genetics | Homeodomain Proteins - genetics | Hemoglobin, Sickle - metabolism | Polymorphism, Genetic | Kruppel-Like Transcription Factors | Carrier Proteins - genetics | beta-Globins - metabolism | Anemia, Sickle Cell - metabolism | Adolescent | Alleles | Fetal Hemoglobin - genetics | Arabs - genetics | Mutation | Anemia, Sickle Cell - genetics | Genetic research | Hemoglobin | Genetic aspects | Sickle cell anemia | Index Medicus
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