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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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المصدر: NDT Plus
مصطلحات موضوعية: Genetics, Transplantation, Mutation, NPHS2, nephrotic syndrome, business.industry, Chromosome, Case Report, Single-nucleotide polymorphism, medicine.disease, medicine.disease_cause, Phenotype, Exon, Nephrology, Medicine, homozygosity, business, Nephrotic syndrome, Gene, podocin, SNP array
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3f432049b1fce8b075e9caf257416d
https://doi.org/10.1093/ndtplus/sfq149 -
3Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
المؤلفون: John F. O’Toole, Joseph Washburn, Richard A. Lewis, Savas Ozturk, Jeffrey W. Innis, Toby W. Hurd, Khawla A Rahim, Ahmet Nayir, James W. MacDonald, Pawaree Saisawat, Erica E. Davis, Clementine Fu, Rannar Airik, Nikola Jeck, Peter Nürnberg, Gunther Klaus, Shawn Levy, Shazia Ashraf, Friedhelm Hildebrandt, Gudrun Nürnberg, Virginia Vega-Warner, Massimo Attanasio, Katrina A. Diaz, Humphrey Fang, Dorota Drozdz, Edgar A. Otto, Udo Vester, Ibrahim Al Attrach, Moumita Chaki, Ibrahim Al Hassoun, Weibin Zhou, Sabine Janssen, Andrew Cluckey, Susan J. Allen, Nicholas Katsanis, Gokul Ramaswami, Heon Yung Gee, Hanan M. Fathy, Udo Helmchen, Stefanie Weber, Stefan Kohl, Jamie L. Innis
المصدر: Gee, H Y, Otto, E A, Hurd, T W, Ashraf, S, Chaki, M, Cluckey, A, Vega-Warner, V, Saisawat, P, Diaz, K A, Fang, H, Kohl, S, Allen, S J, Airik, R, Zhou, W, Ramaswami, G, Janssen, S, Fu, C, Innis, J L, Weber, S, Vester, U, Davis, E E, Katsanis, N, Fathy, H M, Jeck, N, Klaus, G, Nayir, A, Rahim, K A, Attrach, I A, Hassoun, I A, Ozturk, S, Drozdz, D, Helmchen, U, O'Toole, J F, Attanasio, M, Lewis, R A, Nürnberg, G, Nürnberg, P, Washburn, J, Macdonald, J, Innis, J W, Levy, S & Hildebrandt, F 2013, ' Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies ', Kidney International . https://doi.org/10.1038/ki.2013.450
Kidney International; Vol 85
Kidney internationalمصطلحات موضوعية: Adult, Male, kidney, Adolescent, DNA Mutational Analysis, 030232 urology & nephrology, Medizin, Genes, Recessive, Disease, Biology, Bioinformatics, Ciliopathies, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Exome, Genetic Testing, 030304 developmental biology, Genetic testing, Cystic kidney, Genetics, 0303 health sciences, medicine.diagnostic_test, Infant, Kidney Diseases, Cystic, medicine.disease, Disease gene identification, 3. Good health, Ciliopathy, Early Diagnosis, Phenotype, Nephrology, Mutation, Kidney disease
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542250aee492e573e845add2a8319913
https://ruj.uj.edu.pl/xmlui/handle/item/132467 -
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المؤلفون: Abdul Islam Butt, Pamela Carroll, Rana Al-Amr, Hamad Al-Mojalli, Abbas Al-Abbad, Brian F. Meyer, Mohamed H Al-Hamed, Ibrahim Al-Hassoun
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 8(7)
مصطلحات موضوعية: Male, medicine.medical_specialty, Receptors, Vasopressin, DNA Mutational Analysis, Saudi Arabia, Diabetes Insipidus, Nephrogenic, Consanguinity, Biology, medicine.disease_cause, Internal medicine, medicine, Missense mutation, Coding region, Humans, Genetic Testing, Genetics (clinical), Southern blot, Genetics, Mutation, Aquaporin 2, Genetic heterogeneity, Nephrogenic diabetes insipidus, medicine.disease, Arabs, Pedigree, Endocrinology, Female
Find this article in full text from Springer Verlag.