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1. Full Text The application of next-generation sequencing in the autozygosity mapping of human recessive diseases
by Alkuraya, Fowzan S
Human genetics, ISSN 0340-6717, 11/2013, Volume 132, Issue 11, pp. 1197 - 1211
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Homozygote | Pedigree | Humans | Chromosome Mapping | Polymorphism, Single Nucleotide | Mutation | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Genes, Recessive | Sequence Analysis, DNA - methods | Microsatellite Repeats | Genetics | Genes | Genomes | Index Medicus
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2. Full Text Discovery of mutations for Mendelian disorders
by Alkuraya, Fowzan S
Human genetics, ISSN 0340-6717, 6/2016, Volume 135, Issue 6, pp. 615 - 623
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Genetic Predisposition to Disease | Humans | Genetic Diseases, Inborn - genetics | Mutation - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Genomes | Genetic aspects | Comparative analysis | Genes | Genomics | Index Medicus
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3. Full Text A genetic revolution in rare-disease medicine
by Fowzan S Alkuraya
Nature (London), ISSN 0028-0836, 02/2021, Volume 590, Issue 7845, pp. 218 - 219
Medicine | Nucleotide sequence | Cloning | Genomics | Genes | Cardiovascular disease | Genomes | Mutation | Deoxyribonucleic acid--DNA | Genetic screening
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4. Full Text How the human genome transformed study of rare diseases
by Alkuraya, Fowzan S
Nature (London), ISSN 0028-0836, 02/2021, Volume 590, Issue 7845, pp. 218 - 219
Exome | Rare Diseases - genetics | Rare Diseases - therapy | Biological Specimen Banks | Humans | United Kingdom | Genome, Human - genetics
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5. Full Text Phenotypic expansion of OTUD6B‐related syndrome
by Alkuraya, Fowzan S
American journal of medical genetics. Part A, ISSN 1552-4825, 06/2020, Volume 182, Issue 6, pp. 1530 - 1531
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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6. Full Text Human knockout research: new horizons and opportunities
by Alkuraya, Fowzan S
Trends in genetics, ISSN 0168-9525, 2014, Volume 31, Issue 2, pp. 108 - 115
Medical Education | autozygome | adaptation | evolution | druggable targets | loss of function | Evolution | Loss of function | Adaptation | Autozygome | Druggable targets | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Phenotype | Genetic Association Studies | Genes | Humans | Research | Gene Knockout Techniques | Genome, Human | Evolution, Molecular | Cells | Index Medicus
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7. Full Text Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
by Shaheen, Ranad and Faqeih, Eissa and Sunker, Asma and Morsy, Heba and Al-Sheddi, Tarfa and Shamseldin, Hanan E and Adly, Nouran and Hashem, Mais and Alkuraya, Fowzan S
American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 328 - 333
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Limb Deformities, Congenital - genetics | Genes, Recessive - genetics | Humans | Actins - metabolism | Child, Preschool | Molecular Sequence Data | Infant | Male | DNA Mutational Analysis | Guanine Nucleotide Exchange Factors - metabolism | Base Sequence | Female | Scalp Dermatoses - genetics | Scalp Dermatoses - congenital | Fibroblasts - metabolism | Guanine Nucleotide Exchange Factors - genetics | Cytoskeleton - pathology | Embryonic Development - genetics | Fibroblasts - pathology | Mutation - genetics | Animals | Pedigree | Cytoskeleton - metabolism | Ectodermal Dysplasia - genetics | Mice | Genotype & phenotype | Congenital diseases | Mutation | Cytokines | Pathogenesis | Index Medicus | Cdc42 protein | Limbs | Guanidine | Rac1 protein | Heredity | Nucleotides | Cytokinesis | Gene expression | Aplasia | Actin | Cytoskeleton | Skin | Guanosinetriphosphatase | Report
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8. Full Text Genetics and genomic medicine in Saudi Arabia
by Alkuraya, Fowzan S
Molecular genetics & genomic medicine, ISSN 2324-9269, 09/2014, Volume 2, Issue 5, pp. 369 - 378
Brain | Disorders | Impairment | Cognitive ability | Retina | Genetic screening | Annotations | Neurodegeneration | Bone marrow | Genetics | Marriage | Neutropenia | Strabismus | Anemia | Mortality | Abnormalities | Immunodeficiency | Hypohidrosis | Fanconi syndrome | Metabolism | Hearing loss | Hospitals | Prenatal diagnosis | Islam | Neurological complications | Osteogenesis imperfecta | Syndactyly | Consanguinity | Anomalies | Glaucoma | Hydrocephalus | Epilepsy | Myopia | Genomes | Dwarfism | Atrophy | Biomedical materials | Startle response | Population | Degeneration | BRCA2 protein | Modernization | Industrialized nations | Health care policy | Paraplegics | Thalassemia | Breast cancer | Expatriates | Minority & ethnic groups | Primary care | Corpus callosum | Medicine | Crohn's Disease | Dystrophy | Osteogenesis | Myopathy | Invited | Genetics and Genomic Medicine Around the World
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9. Full Text Confirming TBC1D32‐related ciliopathy in humans
by Alsahan, Nada and Alkuraya, Fowzan S
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2020, Volume 182, Issue 8, pp. 1985 - 1987
single nostril | midline | hydrocephalus | anophthalmia | Index Medicus
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10. Full Text Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
by Aldahmesh, Mohammed A and Mohamed, Jawahir Y and Alkuraya, Hisham S and Verma, Ishwar C and Puri, Ratna D and Alaiya, Ayodele A and Rizzo, William B and Alkuraya, Fowzan S
American journal of human genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 745 - 750
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Dyskeratosis | Dermatology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Association Studies | Quadriplegia - genetics | Membrane Proteins - genetics | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Genes, Recessive | Sequence Analysis, DNA | Intellectual Disability - genetics | Exome | Abnormalities, Multiple - diagnosis | Base Sequence | Intellectual Disability - diagnosis | Fatal Outcome | Ichthyosis - genetics | Quadriplegia - diagnosis | Consanguinity | Eye Proteins - genetics | Fatty Acids - metabolism | Abnormalities, Multiple - genetics | Ichthyosis - diagnosis | Brain | Usage | Gene mutations | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Quadriplegia | Research | Ichthyosis | Signal transduction | Learning disabilities | Mutation | Fatty acids | Cells | Index Medicus | Report
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11. Full Text LPS-responsive beige-like anchor ( LRBA ) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
by Alangari, Abdullah, MD and Alsultan, Abdulrahman, MD and Adly, Nouran, BSc and Massaad, Michel J., PhD and Kiani, Iram Shakir, MD and Aljebreen, Abdulrahman, MD and Raddaoui, Emad, MD and Almomen, Abdul-Kareem, MD and Al-Muhsen, Saleh, MD and Geha, Raif S., MD and Alkuraya, Fowzan S., MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 2, pp. 481 - 488.e2
Allergy and Immunology | common variable immunodeficiency | autoimmunity | LPS-responsive beige-like anchor (LRBA) | chronic diarrhea | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Other diseases. Semiology | Humans | Inflammatory Bowel Diseases - immunology | Molecular Sequence Data | Male | Lipopolysaccharides - immunology | Exome - immunology | Young Adult | DNA Mutational Analysis | Base Sequence | Inflammatory Bowel Diseases - genetics | Inflammatory Bowel Diseases - complications | Child | Immunophenotyping | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Exome - genetics | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Family | Consanguinity | Mutation | Medical colleges | Gene mutations | Gastrointestinal diseases | Genes | Immunodeficiency | Genetic research | Genetic aspects | Inflammatory bowel disease | Immune system | Index Medicus | Abridged Index Medicus | Inflammatory bowel diseases | Filtration | Intestine | Phenotyping | Point mutation | Gene mapping | Immunity | Genetic screening
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