المؤلفون: Michal Mrug, Michelle S. Bloom, Christine Seto, Meenakshi Malhotra, Hossein Tabriziani, Philippe Gauthier, Vicki Sidlow, Trudy McKanna, Paul R. Billings

المصدر: Kidney Medicine, Vol 3, Iss 6, Pp 1050-1056 (2021)

مصطلحات موضوعية: Genetic testing, next-generation sequencing, inherited, hereditary, familial, renal, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2590059521002107Test; https://doaj.org/toc/2590-0595Test

الوصول الحر: https://doaj.org/article/f3c39481dd5241c6a546f2f423febeaeTest

المؤلفون: Michelle S. Bloom, Philippe Gauthier, Meenakshi Malhotra, Michal Mrug, Vicki Sidlow, Christine Seto, Paul Billings, Hossein Tabriziani, Trudy McKanna

المصدر: Kidney Medicine

مصطلحات موضوعية: kidney, medicine.medical_specialty, Genetic testing, media_common.quotation_subject, Context (language use), Disease, Internal Medicine, medicine, survey, Medical diagnosis, disorders, Selection (genetic algorithm), Original Research, media_common, Selection bias, disease, medicine.diagnostic_test, business.industry, familial, medicine.disease, inherited, Test (assessment), Nephrology, Family medicine, next-generation sequencing, renal, business, hereditary, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2b4406fd85abd45305cf4c5105e537Test
https://doi.org/10.1016/j.xkme.2021.08.006Test

المؤلفون: Anthony J. Bleyer, Maggie Westemeyer, Jing Xie, Michelle S. Bloom, Katya Brossart, Jason J. Eckel, Frederick Jones, Miklos Z. Molnar, Wayne Kotzker, Prince Anand, Stanislav Kmoch, Yuan Xue, Samuel Strom, Sumit Punj, Zachary P. Demko, Hossein Tabriziani, Paul R. Billings, Trudy McKanna

المصدر: Am J Nephrol

مصطلحات موضوعية: Adult, Male, Nephrology, Mutation, High-Throughput Nucleotide Sequencing, Humans, Female, Novel Research Findings, Genetic Testing, Renal Insufficiency, Chronic, Kidney

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bb624c324a057cda64796a2ef916d4Test
https://pubmed.ncbi.nlm.nih.gov/35325889Test

المؤلفون: Susanne Roosing, Marta Romani, Mala Isrie, Rasim Özgür Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al‐Gazali, Umut Altunoğlu, Eugen Boltshauser, Stefano D'Arrigo, B. De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Dua Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente

مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Hedgehog Signaling in Development and Cancer, Molecular Biology, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Medicine, Health Sciences, Ciliopathies, Ciliopathy, Joubert syndrome, Exome sequencing, Biology, Phenotype, Genetic heterogeneity, Cilium, Gene

العلاقة: https://dx.doi.org/10.60692/0tq4z-abz84Test

الإتاحة: https://doi.org/10.60692/2adxf-yxp7510.60692/0tq4z-abz84Test

المؤلفون: Maggie Westemeyer, Jessica Chaperon, Philippe Gauthier, Jessica M. Coleman, Dinah Clark, Nina M. Wemmer, Trudy McKanna, Yan Bai

المصدر: Am J Nephrol

مصطلحات موضوعية: Adult, medicine.medical_specialty, Referral, Autosomal dominant polycystic kidney disease, Disease, Young Adult, Internal medicine, medicine, Humans, Genetic Testing, Preimplantation Diagnosis, Genetic testing, Retrospective Studies, Pregnancy, PKD1, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Nephrology, Cohort, Novel Research Findings, Kidney Diseases, business, Laboratories, Clinical, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98d783a9d640b5de8c52920a9b043675Test
https://europepmc.org/articles/PMC8619921Test/

المؤلفون: Daniel H. Saltzman, K. LeChien, Peter Benn, Melissa Stosic, Allison M. Ryan, K. Gardiner, Stephanie Kareht, K. Marchand, Kimberly Martin, S. Krinshpun, A. McElheny, Trudy McKanna, C. Grabarits, M. Ali, M. Hsu

المصدر: Ultrasound in Obstetrics & Gynecology

مصطلحات موضوعية: Trisomy 13 Syndrome, maternal weight, Chromosome Disorders, Cohort Studies, 0302 clinical medicine, Obstetrics and gynaecology, Pregnancy, Risk Factors, Prenatal Diagnosis, 030212 general & internal medicine, guidelines, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, Incidence (epidemiology), Obstetrics and Gynecology, Gestational age, General Medicine, Middle Aged, Original Papers, Cell-free fetal DNA, Cohort, Female, Algorithm, Cell-Free Nucleic Acids, Algorithms, Adult, triploidy, Adolescent, Gestational Age, Sensitivity and Specificity, 03 medical and health sciences, Young Adult, fetal fraction, Predictive Value of Tests, medicine, Humans, Radiology, Nuclear Medicine and imaging, Fetus, Original Paper, trisomy, business.industry, Infant, Newborn, medicine.disease, Reproductive Medicine, prenatal screening, pregnancy loss, Down Syndrome, Trisomy, business, NIPT, Trisomy 18 Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1c12f5b80e4f6a40e9e17daa8740021Test
http://europepmc.org/articles/PMC6587793Test

المؤلفون: Sarah McCormick, Paul Billings, Lauren Beretich, Philippe Gauthier, Hossein Tabriziani, Trudy McKanna

المصدر: Molecular Genetics and Metabolism. 132:S206-S207

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, Diagnostic test, Medical physics, business, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::17f2ae053c752e011f02d8a6b18df8d6Test
https://doi.org/10.1016/s1096-7192Test(21)00405-4

المؤلفون: Yuan Xue, Jing Xie, Beth Jiorle, Fang Fang, Anna Katya Brossart, Trudy McKanna, Samuel P. Strom, Paul Billings, Sarah McCormick, Lauren Beretich

المصدر: Molecular Genetics and Metabolism. 132:S248-S249

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pediatric Kidney Disease, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, Medicine, business, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2bcef22eafdca61e07f0e3366421bcefTest
https://doi.org/10.1016/s1096-7192Test(21)00465-0

المؤلفون: Philippe Gauthier, Lauren Beretich, Hossein Tabriziani, Trudy McKanna, Paul Billings, Sarah McCormick

المصدر: Molecular Genetics and Metabolism. 132:S134

مصطلحات موضوعية: Endocrinology, medicine.diagnostic_test, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, Bioinformatics, business, Molecular Biology, Biochemistry, Kidney transplantation, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4a189391a7835c190d43cffd6c076b3eTest
https://doi.org/10.1016/s1096-7192Test(21)00289-4

المؤلفون: Lihadh Al-Gazali, Paul R. Mark, Tommaso Mazza, Sarah Brandenberger, Mala Isrie, Andrea Poretti, Ratna Puri, Hilde Van Esch, Alessia Micalizzi, Damir Musaev, Marta Romani, Philippe Moerman, Bart De Keersmaecker, Ichraf Kraoua, Stefano D'Arrigo, Hülya Kayserili, Susanne Roosing, Rasim Ozgur Rosti, Joseph G. Gleeson, Umut Altunoglu, Trudy McKanna, Enza Maria Valente, Eugen Boltshauser, Joachim Van Keirsbilck

المساهمون: University of Zurich, Valente, Enza Maria, Human genetics

المصدر: Roosing, S, Romani, M, Isrie, M, Rosti, R O, Micalizzi, A, Musaev, D, Mazza, T, Al-gazali, L, Altunoglu, U, Boltshauser, E, D'Arrigo, S, Keersmaecker, B D, Kayserili, H, Brandenberger, S, Kraoua, I, Mark, P R, McKanna, T, Keirsbilck, J V, Moerman, P, Poretti, A, Puri, R, Esch, H V, Gleeson, J G & Valente, E M 2016, ' Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes ', Journal of Medical Genetics, vol. 53, no. 9, pp. 608-615 . https://doi.org/10.1136/jmedgenet-2016-103832Test
Journal of Medical Genetics, 53, 608-15
Journal of Medical Genetics
Journal of Medical Genetics, 53(9), 608-615. BMJ Publishing Group
Journal of Medical Genetics, 53, 9, pp. 608-15

مصطلحات موضوعية: Male, 0301 basic medicine, Cell Cycle Proteins, Bioinformatics, Ciliopathies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mutation Rate, Cerebellum, Developmental, Eye Abnormalities, Molecular genetics, Child, Genetics (clinical), Exome sequencing, Encephalocele, Genetics, Developmental Defects, Kidney Diseases, Cystic, Orofaciodigital Syndromes, Phenotype, Pedigree, 3. Good health, Medical genetics, Female, 2716 Genetics (clinical), medicine.medical_specialty, 610 Medicine & health, Biology, Retina, Joubert syndrome, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Amino Acid Sequence, Genetic Testing, Clinical genetics, Meckel syndrome, Genetic Association Studies, Neurosciences, medicine.disease, Ciliopathy, 030104 developmental biology, 10036 Medical Clinic, Mutation, Sequence Alignment

وصف الملف: Print-Electronic; application/pdf; RoosingS_2016.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f94314d27122a0a794b7165e17fbd9eTest
http://www.scopus.com/inward/record.url?scp=84966525869&partnerID=8YFLogxKTest