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1دورية أكاديمية
المؤلفون: Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: autozygosity, diabetes, yeast, founder mutation, disease-gene associations, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Muawia A. Ahmed, Abdellatif Bouazzaoui, Abulkareem Anazi, Wajahatullah Khan, Mohiuddin M. Taher, Naji Altayeb, Ramzia Safar, Faisal A. Al-Allaf, Naffaa Al-Harbi, Burhan M. Edrees, Zainularifeen Abduljaleel, Khawala Alansary, Howaida Al-Edressi, Mohammad Athar
المصدر: Genomics Data, Vol 10, Iss C, Pp 127-134 (2016)
Genomics Dataمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Autosomal dominant polycystic kidney disease, Biology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, Phylogenetic, 0302 clinical medicine, Genetics, medicine, Gene, Comparative genomics, Mutation, PKD1, Wild type, Regular Article, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Polycystic kidney and hepatic disease 1 (PKHD1), lcsh:Genetics, 030104 developmental biology, Next generation sequencing (NGS), 030220 oncology & carcinogenesis, Molecular Medicine, Pathogenicity prediction, Biotechnology
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3
المؤلفون: Mohamed Rajab, Khalid A. Alhasan, Eissa Faqeih, Ibrahim Al-Hassoun, Mohamed H Al-Hamed, Safaa Al-Hissi, Naffaa Al-Harbi, John A. Sayer, Hamad Al-Mojalli, Essam Al-Sabban, Hammad Al Shaya, Noel Edwards, Brian F. Meyer, Abbas Al-Abbad
المصدر: Journal of Human Genetics. 58:480-489
مصطلحات موضوعية: Male, medicine.medical_specialty, Nephrotic Syndrome, Saudi Arabia, Biology, medicine.disease_cause, Myosin Type I, Phosphoinositide Phospholipase C, Molecular genetics, Genetics, medicine, Humans, Genetic Testing, Child, Genetics (clinical), Genetic testing, Mutation, medicine.diagnostic_test, Homozygote, Intracellular Signaling Peptides and Proteins, Infant, Membrane Proteins, medicine.disease, Genetic epidemiology, Statistical genetics, Child, Preschool, Medical genetics, Female, Nephrotic syndrome, Pharmacogenetics
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4
المؤلفون: Khawala Alansary, Ramzia Safar, Abdellatif Bouazzaoui, Abulkareem Anazi, Muawia A. Ahmed, Mohiuddin M. Taher, Faisal A. Al-Allaf, Howaida Al-Edressi, Naffaa Al-Harbi, Burhan M. Edrees, Zainularifeen Abduljaleel, Naji Altayeb, Wajahatullah Khan, Mohammad Athar
المصدر: Gene. 591(1)
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Single-nucleotide polymorphism, Biology, Molecular Dynamics Simulation, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Association Studies, Polycystic Kidney, Autosomal Recessive, PKD1, Base Sequence, Genetic disorder, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Molecular Sequence Annotation, General Medicine, Ion semiconductor sequencing, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, 030104 developmental biology, Gene Ontology, Mutation, Female
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5
المؤلفون: Omar Abu-Sa'da, Maha Barbar, Doris Taha, Naffaa Al-Harbi
المصدر: Clinical Dysmorphology. 14:191-196
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Saudi Arabia, Lissencephaly, Pathology and Forensic Medicine, Renal tubular acidosis, Renal tubular dysfunction, Cholestasis, Internal medicine, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Arthrogryposis, Cerebral Cortex, Arc (protein), business.industry, Genetic disorder, Infant, Fanconi syndrome, Acidosis, Renal Tubular, Syndrome, General Medicine, medicine.disease, Magnetic Resonance Imaging, Endocrinology, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0f33b81a75c740fd48804052fc5360
https://doi.org/10.1097/00019605-200510000-00005 -
6
المؤلفون: Doris Taha, Naffaa Al-Harbi, Essam Al-Sabban
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 21(6)
مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, Fasting Hypoglycemia, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Hypoinsulinemia, Nephropathy, Impaired glucose tolerance, chemistry.chemical_compound, Endocrinology, Internal medicine, Diabetes mellitus, medicine, Humans, Insulin, Child, Glycated Hemoglobin, Triglyceride, biology, business.industry, Liver Diseases, Genetic Diseases, Inborn, Infant, Glucose Tolerance Test, medicine.disease, Fanconi Syndrome, Hypoglycemia, chemistry, Child, Preschool, Hyperglycemia, Pediatrics, Perinatology and Child Health, biology.protein, GLUT2, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd8b5d9eb1ccd7133b8ba28df0df659
https://pubmed.ncbi.nlm.nih.gov/18717244 -
7دورية أكاديمية
المؤلفون: Burhan M. Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A. Ahmed
المصدر: Genomics Data, Vol 10, Iss C, Pp 127-134 (2016)
مصطلحات موضوعية: Polycystic kidney and hepatic disease 1 (PKHD1), Autosomal recessive polycystic kidney disease (ARPKD), Next generation sequencing (NGS), Phylogenetic, Pathogenicity prediction, Genetics, QH426-470
وصف الملف: electronic resource