المؤلفون: Peters, Nitin James^Aff2, Samujh, Ram^Aff2

المساهمون: Sarin, Yogesh Kumar, editor^Aff1

المصدر: Wilms’ Tumor. :45-54

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

URL الوصول: https://doaj.org/article/0dbc4dbc4b7e4d0eb758d38c00b6044c

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

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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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3122443caa4502415018a7c3b8b50681
https://doi.org/10.2147/rrn.s270490

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bf444d3c253d37479313ad352ea265
http://europepmc.org/articles/PMC8123728

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

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