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1
المؤلفون: Julian Zielenski, Yuan Xw, T. Nalpathamkalam, Mary Corey, Ruslan Dorfman, LC Tsui, Katherine Keenan, Tanja Gonska, Peter R. Durie, Chelsea Taylor
المصدر: Clinical Genetics. 77:464-473
مصطلحات موضوعية: Canada, Cystic Fibrosis, In silico, Mutation, Missense, Cystic Fibrosis Transmembrane Conductance Regulator, Disease, medicine.disease_cause, Cystic fibrosis, Conserved sequence, Genetics, Humans, Medicine, Missense mutation, Pancreas, Genetics (clinical), Newborn screening, Mutation, biology, business.industry, Computational Biology, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Phenotype, Amino Acid Substitution, ROC Curve, biology.protein, Exocrine Pancreatic Insufficiency, business, Algorithms
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2
المؤلفون: LC Tsui, S Meyer, S. H.E. Zaidi, A D Paterson, A Lindinger, Ahmad S. Teebi, VD Peltekova, Muhammad Faiyaz-Ul-Haque
المصدر: Clinical Genetics. 67:183-188
مصطلحات موضوعية: Genetics, Arterial tortuosity syndrome, PTGIS Gene, Candidate gene, Haplotype, Locus (genetics), Biology, medicine.disease, Disease gene identification, Variable number tandem repeat, Ehlers–Danlos syndrome, medicine, Genetics (clinical)
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3
المؤلفون: Muhammad Faiyaz-Ul-Haque, Wasim Ahmad, Lily King, Daniel H. Cohn, M. Patel, Teepu Siddique, LC Tsui, Sayedul Haque, Mahmud Ahmad, S. H.E. Zaidi
المصدر: Clinical Genetics. 67:93-97
مصطلحات موضوعية: Genetics, Candidate gene, Genetic heterogeneity, Locus (genetics), Biology, medicine.disease, Genetic determinism, Exon, Gene mapping, medicine, Syndactyly, Genetics (clinical), X chromosome
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4
المؤلفون: Wasim Ahmad, Daniel H. Cohn, Sayedul Haque, S Hussain, Mushtaq Ahmad, S H E Zaidi, Muhammad Faiyaz-Ul-Haque, LC Tsui
المصدر: Clinical Genetics. 66:144-151
مصطلحات موضوعية: Genetics, Mutation, Intron, Biology, medicine.disease_cause, Penetrance, Frameshift mutation, Exon, Mutation testing, medicine, Transversion, Gene, Genetics (clinical)
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5
المؤلفون: Faiyaz-Ul-Haque M, Teebi As, Susan Blaser, Paterson Ad, Brenda Banwell, LC Tsui, Lo B
المصدر: Clinical Genetics. 65:137-142
مصطلحات موضوعية: Genetics, Horizontal gaze palsy, Locus (genetics), Scoliosis, Anatomy, Biology, medicine.disease, Disease gene identification, Hypoplasia, Ocular Motility Disorders, Maldevelopment, medicine, Paralysis, medicine.symptom, Genetics (clinical)
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6
المؤلفون: Wasim Ahmad, Muhammad Faiyaz-Ul-Haque, Mahmud Ahmad, S H E Zaidi, Ahmad S. Teebi, Daniel H. Cohn, LC Tsui, Sayedul Haque
المصدر: Clinical Genetics. 61:454-458
مصطلحات موضوعية: Genetics, Bone growth, Mutation, medicine.medical_specialty, Brachydactyly, Heterozygote advantage, Biology, Bone morphogenetic protein, medicine.disease, medicine.disease_cause, Autosomal recessive trait, Endocrinology, Internal medicine, medicine, Missense mutation, Gene, Genetics (clinical)
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7
المصدر: Pediatric Pulmonology. 26:125-145
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Gerontology, medicine.medical_specialty, business.industry, education, Pediatrics, Perinatology and Child Health, medicine, Intensive care medicine, medicine.disease, business, Cystic fibrosis, Pathophysiology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::81b4e1ff55139e1feaa83f47df96fc62
https://doi.org/10.1002/(sici)1099-0496(199810)26:17+<125::aid-ppul5>3.0.co;2-f -
8
المؤلفون: LC Tsui, VD Peltekova, A Eltohami, AS Teebi, AlMureikhi, G Al-thani, Atiqa Abdul Wahab, S H E Zaidi, Muhammad Faiyaz-Ul-Haque
المصدر: Clinical genetics. 74(2)
مصطلحات موضوعية: Family health, Genetics, Family Health, Arterial tortuosity syndrome, DNA Mutational Analysis, Glucose Transport Proteins, Facilitative, Mutation, Missense, Saudi Arabia, Consanguinity, Arteries, Biology, medicine.disease, Pedigree, Phenotype, Mutation (genetic algorithm), medicine, Missense mutation, Humans, Connective Tissue Diseases, Gene, Genetics (clinical)
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9
المؤلفون: AlMureikhi, She Zaidi, Muhammad Faiyaz-Ul-Haque, I Peltekova, LC Tsui, Ahmad S. Teebi
المصدر: Clinical genetics. 72(2)
مصطلحات موضوعية: Eye disease, Molecular Sequence Data, Biology, Microphthalmia, Consanguinity, Anophthalmos, Genetics, medicine, Humans, Microphthalmos, Gene, Qatar, Genetics (clinical), Homeodomain Proteins, Anophthalmia, Base Sequence, medicine.disease, Pedigree, Mutation (genetic algorithm), Mutation, Congenital disease, Sequence Analysis, Non syndromic, Transcription Factors
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10
المؤلفون: Shelley J. Kennedy, Ahmad S. Teebi, LC Tsui, Muhammad Faiyaz-Ul-Haque, Bryan Lo, R. Aviv
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: Sequence analysis, Mutation, Missense, Penetrance, Biology, medicine.disease_cause, Exon, SH3BP2, medicine, Humans, Transversion, Peptide sequence, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genes, Dominant, Genetics, Mutation, Base Sequence, Cherubism, Sequence Analysis, DNA, medicine.disease, Pedigree, Chromosomes, Human, Pair 4, Carrier Proteins, Head