المؤلفون: Rima Dada, Manoj Kumar, Meenakshi Wadhwani

المصدر: Kerala Journal of Ophthalmology, Vol 33, Iss 2, Pp 201-204 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, aniridia, Glaucoma, Nystagmus, medicine.disease_cause, Ptosis, medicine, Mutation, wilms tumor, business.industry, Wilms' tumor, General Medicine, RE1-994, medicine.disease, eye diseases, Ophthalmology, Aniridia, cataract, PAX6, sense organs, Presentation (obstetrics), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01e1e766079ae153a1770f3a6d2ee651
http://www.kjophthal.com/article.asp?issn=0976-6677;year=2021;volume=33;issue=2;spage=201;epage=204;aulast=Wadhwani

المؤلفون: Roland P. Kuiper, Marjolijn C.J. Jongmans, Gudrun Schleiermacher, Marry M. van den Heuvel-Eibrink, Hélène Sudour-Bonnange, Catherine Rechnitzer, Antonio Wachtel, Gordan M. Vujanic, Gema L. Ramírez-Villar, Norbert Graf, Beatriz de Camargo, Christophe Bergeron, Niklas Pal, Simona Avcin, Harm van Tinteren, Danka Redzic, Tanzina Chowdhury, Axel Karow, Janna A. Hol, Kathy Pritchard-Jones, Heidi Segers

المساهمون: Clinical sciences, Growth and Development, Pediatrics

المصدر: Cancer

مصطلحات موضوعية: Male, Cancer Research, INTERMEDIATE-RISK, WAGR syndrome (Wilms tumor, Kidney, Gastroenterology, 0302 clinical medicine, Risk Factors, 030212 general & internal medicine, Stage (cooking), Nephroblastomatosis, treatment, Wilms tumor, ASSOCIATION, CHEMOTHERAPY, Progression-Free Survival, and range of developmental delays), Oncology, Liver, 030220 oncology & carcinogenesis, Child, Preschool, surveillance, TRIAL, Original Article, Female, medicine.symptom, Life Sciences & Biomedicine, medicine.medical_specialty, WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays), Drug-Related Side Effects and Adverse Reactions, aniridia, WAGR syndrome, genitourinary anomalies, PATIENT, Wilms Tumor, RENAL TUMORS, Discipline, 03 medical and health sciences, WAGR Syndrome, INTERNATIONAL-SOCIETY, Internal medicine, medicine, Humans, Pediatrics, Perinatology, and Child Health, Survival rate, Anaplasia, Science & Technology, business.industry, Genitourinary system, DELETION, Antineoplastic Protocols, Infant, Wilms' tumor, Original Articles, medicine.disease, GENE, pediatric, predisposition, Aniridia, Pediatric Oncology, business, Gene Deletion

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2b0340009ac25bdb781367aaaf23ce
http://europepmc.org/articles/PMC7894534

المؤلفون: Mamdoh AlTabban, Lina Khouri, Ibrahim Abdullah, Sami Jomaa, Dana Shubat, Sawsan Ismail

المصدر: Annals of Medicine and Surgery

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, rhinorrhea, business.industry, Genitourinary system, Genetic disorder, Vital signs, COVID-19, WAGR syndrome, Wilms' tumor, General Medicine, medicine.disease, Aniridia, Case report, Intellectual disability, medicine, Surgery, medicine.symptom, 2019-nCoV disease, business, Children

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c4a38fecafcabb5a272cc5c1994a2a
https://doi.org/10.1016/j.amsu.2021.102732

المؤلفون: Dennis S. Peppas, Eran Rosenberg, Lisa B E Shields

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Urethral Obstruction, Voiding cystourethrogram, lcsh:QH426-470, PAX6 Transcription Factor, aniridia, Urology, WAGR syndrome, 030105 genetics & heredity, Kidney, urologic and male genital diseases, Vesicoureteral reflux, Diagnosis, Differential, 03 medical and health sciences, Urethra, Genetics, medicine, Humans, Cyst, Genetic Testing, Molecular Biology, Hydronephrosis, Obstructive uropathy, Genetics (clinical), pediatric urology, Clinical Report, wilms tumor, medicine.diagnostic_test, urogenital system, business.industry, Wilms' tumor, Syndrome, medicine.disease, female genital diseases and pregnancy complications, ureteral valve, lcsh:Genetics, 030104 developmental biology, Aniridia, Child, Preschool, Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b5d4745ae1d8a40f7dfe8a9e72a6db
https://doi.org/10.1002/mgg3.1183

المؤلفون: Barbara Käsmann-Kellner, Rena A. Zinchenko, G.M. Bayazutdinova, O. V. Khlebnikova, Andrey V. Marakhonov, N. A. Pozdeyeva, Elena V. Semina, E. K. Ginter, Sergey I. Kutsev, T.A. Vasilyeva, A. A. Voskresenskaya

المصدر: Clinical Genetics. 92:639-644

مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Genitourinary system, Partial aniridia, WAGR syndrome, Wilms' tumor, 030105 genetics & heredity, medicine.disease, Dermatology, eye diseases, 03 medical and health sciences, 030104 developmental biology, Aniridia, Cohort, medicine, sense organs, PAX6, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a27940290d59b440f102271ec43a3c5a
https://doi.org/10.1111/cge.13019

المؤلفون: Stephen J. Sharp, Andrew J. Mannes, Mark D. Lee, Matthew R. Sapio, Jack A. Yanovski, Joan C. Han, Shannon R. Fuhr, Jack W. Tsao, Michael J. Iadarola, Audrey Thurm, Amanda E. Huey, Tanya J. Lehky, Danielle M. LaPaglia, Kristen M. Danley

المصدر: Pain. 160:1070-1081

مصطلحات موضوعية: Adult, Male, Pain Threshold, Knockout rat, Adolescent, Pain, Article, Young Adult, WAGR Syndrome, Neurotrophic factors, Ganglia, Spinal, Physical Stimulation, medicine, Animals, Humans, Child, Pain Measurement, business.industry, Brain-Derived Neurotrophic Factor, Gene Expression Profiling, Lasers, Wilms' tumor, medicine.disease, Rats, Gene expression profiling, Anesthesiology and Pain Medicine, Nociception, Spinal Cord, Neurology, Hyperalgesia, Aniridia, Mutation, Female, Neurology (clinical), Rats, Transgenic, Aversive Stimulus, business, Haploinsufficiency, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd4b3c73ebe082d11251aaca5721bd7
https://doi.org/10.1097/j.pain.0000000000001485

المؤلفون: Susan Kuldanek, Kelsey Zegar, Katherine T. Lind, Nicholas G. Cost, Kami Wolfe Schneider, Robert W. Enzenauer

المصدر: Ophthalmic genetics. 42(2)

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Nonsense mutation, WAGR syndrome, 030105 genetics & heredity, Malignancy, medicine.disease_cause, Wilms Tumor, Germline, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Eye Proteins, Aniridia, Genetics (clinical), Genetics, Mutation, business.industry, Wilms' tumor, medicine.disease, Prognosis, eye diseases, Kidney Neoplasms, Ophthalmology, Codon, Nonsense, Child, Preschool, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, sense organs, PAX6, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e98bedbc83294a212cebef6ba3a40a5
https://pubmed.ncbi.nlm.nih.gov/33300417

المؤلفون: Hvězdoslav Stefan, Vladimír Semecký

المصدر: Acta Medica, Vol 41, Iss 1, Pp 29-33 (1998)

مصطلحات موضوعية: Aniridia, Gonadoblastoma, Wilms' tumor, Deletion 11p13, Medicine

وصف الملف: electronic resource

Relation: https://actamedica.lfhk.cuni.cz/41/1/0029/; https://doaj.org/toc/1211-4286; https://doaj.org/toc/1805-9694

URL الوصول: https://doaj.org/article/16e28d4fd3244020960a3698953583b9

المؤلفون: Blickman, Johan G.^Aff1_1672, Ashi, Dewi^Aff2_1672

المساهمون: Baert, Albert L., editor^Aff1

المصدر: Encyclopedia of Diagnostic Imaging. :1255-1256

المؤلفون: Juan Sebastián Arias-Flórez, Silvia Juliana Galvis-Blanco, Gustavo Adolfo Contreras-García

المصدر: Archivos Argentinos de Pediatria. 117

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Pathology, medicine.medical_specialty, business.industry, Genetic disorder, WAGR syndrome, Wilms' tumor, medicine.disease, eye diseases, 03 medical and health sciences, Buphthalmos, 030104 developmental biology, 0302 clinical medicine, Aniridia, Pediatrics, Perinatology and Child Health, medicine, PAX6, business, Haploinsufficiency, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7818df3bf3be478bfc0440f8c2ee2266
https://doi.org/10.5546/aap.2019.e505