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1كتاب إلكتروني
المؤلفون: Peters, Nitin JamesAff2, Samujh, RamAff2
المساهمون: Sarin, Yogesh Kumar, editorAff1
المصدر: Wilms’ Tumor. :45-54
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2دورية أكاديمية
المؤلفون: Salameh K, Viswanathan B, Nawaz Z, Habboub L, Tomerak A, Pattuvalappil R
المصدر: Research and Reports in Neonatology, Vol Volume 10, Pp 89-93 (2020)
مصطلحات موضوعية: dis3l2, perlman syndrome, prune belly syndrome, wilm’s tumour, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://www.dovepress.com/perlman-syndrome-with-deletion-of-dis3l2-gene-peer-reviewed-article-RRN; https://doaj.org/toc/1179-9935
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المؤلفون: M.O. Ryznychuk, V.P. Pishak
المصدر: CHILD`S HEALTH. :99-104
مصطلحات موضوعية: Genetics, Pediatrics, medicine.medical_specialty, business.industry, Sotos syndrome, Locus (genetics), Gene mutation, medicine.disease, Proteus syndrome, Gigantism, Chromosome 17 (human), Pediatric endocrinologist, Mutation (genetic algorithm), medicine, Endocrine system, General Earth and Planetary Sciences, Perlman syndrome, business, General Environmental Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b864d9bdf83f74dda0d7ba2d101dbd
https://doi.org/10.22141/2224-0551.4.64.2015.75337 -
4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: Khalil Salameh, Lina Habboub, Rajesh Pattuvalappil, Brijroy Viswanathan, Zafar Nawaz, Ahmed Tomerak
المصدر: Research and Reports in Neonatology. 10:89-93
مصطلحات موضوعية: Genetics, business.industry, General Engineering, Medicine, Perlman syndrome, business, medicine.disease, Gene
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المؤلفون: Ilsiya V Osipova, Rafael F Shavaliev, N.R. Akramov
المصدر: Medicine
مصطلحات موضوعية: Male, Denys–Drash syndrome, medicine.medical_specialty, Genes, Wilms Tumor, medicine.medical_treatment, surgical treatment, Aneuploidy, Wilms’ tumor, WT1 gene mutation, XY, 03 medical and health sciences, 0302 clinical medicine, children, disorder of sexual development 46, medicine, Humans, Orchiopexy, 030212 general & internal medicine, Perlman syndrome, Clinical Case Report, hypospadias, Child, Exome, Exome sequencing, Denys-Drash syndrome, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Kidney Neoplasms, Nephrectomy, Surgery, Hypospadias, Urogenital Abnormalities, 030220 oncology & carcinogenesis, business, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f499a4027febbb450986c3aa7991025
http://europepmc.org/articles/PMC8133155 -
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المؤلفون: Daniel Kwesi Sabbah, Solomon Obiri-Yeboah, Tamara Busch, Alexander Acheampong Oti, Peter Donkor, Thirona Naicker, Noura Al Dhaheri, Waheed O Awotoye, Fareed K. N. Arthur, Pius Agbenorku, Nara Sobreira, Lord J.J. Gowans, Gyikua Plange-Rhule, Azeez Alade, Mary Li, Peter Twumasi, Azeez Butali, Jeffrey C. Murray
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, genetic syndromes, Cleft Lip, Vesicular Transport Proteins, Autophagy-Related Proteins, QH426-470, 030105 genetics & heredity, clubfoot, 03 medical and health sciences, CHARGE syndrome, Genetic Heterogeneity, Genetics, medicine, Humans, Vici syndrome, Perlman syndrome, Congenital talipes equinovarus, Molecular Biology, Fraser syndrome, Genetics (clinical), Exome sequencing, Africa South of the Sahara, Homeodomain Proteins, Extracellular Matrix Proteins, Whole Genome Sequencing, business.industry, DNA Helicases, Infant, Newborn, Infant, Original Articles, Syndrome, medicine.disease, Cleft Palate, DNA-Binding Proteins, 030104 developmental biology, Ki-67 Antigen, orofacial clefts, Child, Preschool, Original Article, whole‐exome sequencing, Female, business, Treacher Collins syndrome, Transcription Factors
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المؤلفون: Al-Sunini Muna M, Al-Faraj Jaffer S, Zaal Hani R, Al-Buali Majed J, Al Mousa Haider H, Al-Shams Ahmed A, Al-Mohammed Salah M
المصدر: Molecular and Genetic Medicine. 14
مصطلحات موضوعية: Polyhydramnios, Pediatrics, medicine.medical_specialty, business.industry, Genetic disorder, Macrocephaly, Chylothorax, medicine.disease, Overgrowth syndrome, Nephromegaly, medicine, Perlman syndrome, medicine.symptom, business, Visceromegaly
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1bc9515f2bd0f7bf79c44718b015390e
https://doi.org/10.37421/jmgm.2020.14.447 -
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المؤلفون: Joshua T. Mendell, Yang Xie, Dinesh Rakheja, Hema Manjunath, Yangjian Liu, Asha Acharya, Thomas L. Carroll, Harini Ramalingam, James A. Richardson, Robert E. Hammer, Ryan Hunter, He Zhang, Beibei Chen, Benjamin T. Jones
المصدر: Genes & Development. 32:903-908
مصطلحات موضوعية: 0301 basic medicine, Biology, medicine.disease_cause, LIN28, Wilms Tumor, Cell Line, Fetal Macrosomia, Mice, Research Communication, 03 medical and health sciences, Insulin-Like Growth Factor II, microRNA, Genetics, medicine, Animals, Humans, Perlman syndrome, Progenitor cell, Loss function, Mice, Inbred BALB C, Stem Cells, Wilms' tumor, Nephrons, medicine.disease, Up-Regulation, Mice, Inbred C57BL, Disease Models, Animal, MicroRNAs, 030104 developmental biology, Exoribonucleases, Mutation, Cancer research, Stem cell, Carcinogenesis, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f356e1c170b56009087602673029dc
https://doi.org/10.1101/gad.315804.118