المؤلفون: L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko, L. D. Belotserkovtseva

المصدر: Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Potocki-Lupski syndrome (PTLS), Family case study, 17p11.2 microduplication, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/9fbd6bc59e8541df8111164188ff9794Test

المؤلفون: Deginet E, Abdissa D, Hailu T

المصدر: Pediatric Health, Medicine and Therapeutics, Vol Volume 15, Pp 129-131 (2024)

مصطلحات موضوعية: potocki-lupski syndrome, child, ethiopia, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.dovepress.comTest/potocki-lupski-syndrome-in-ethiopian-child-a-case-report-peer-reviewed-fulltext-article-PHMT; https://doaj.org/toc/1179-9927Test

الوصول الحر: https://doaj.org/article/40ff2a34654143de8895470221fe7e23Test

المؤلفون: Antunes, Marta, Ferraz de Liz, Mariana, Correia , Zulmira

المصدر: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 No. 1 (2023); 41-44 ; NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 N.º 1 (2023); 41-44 ; 2183-9417

مصطلحات موضوعية: behavior problem, healthy sibling, intellectual disability, Potocki-Lupski syndrome, alteração comportamental, debilidade intelectual, irmão saudável, síndrome Potocki-Lupski

وصف الملف: application/pdf

العلاقة: https://revistas.rcaap.pt/nascercrescer/article/view/25110/22546Test; https://revistas.rcaap.pt/nascercrescer/article/view/25110Test

الإتاحة: https://revistas.rcaap.pt/nascercrescer/article/view/25110Test

المؤلفون: Oksana I. Talantseva, Galina V. Portnova, Raisa S. Romanova, Daria A. Martynova, Olga V. Sysoeva, Elena L. Grigorenko

المصدر: Journal of Personalized Medicine; Volume 13; Issue 3; Pages: 439

مصطلحات موضوعية: Potocki–Lupski syndrome, 17p11.2, PTLS, autism, ASD, EEG, language, speech

وصف الملف: application/pdf

العلاقة: Clinical Medicine, Cell, and Organism Physiology; https://dx.doi.org/10.3390/jpm13030439Test

الإتاحة: https://doi.org/10.3390/jpm13030439Test

المؤلفون: Junfeng Li, Jie Bao, Di Zhang, Shuzhen Zhou

المصدر: BMC Anesthesiology, Vol 21, Iss 1, Pp 1-3 (2021)

مصطلحات موضوعية: Cesarean section, Potocki -Lupski syndrome, Spinal anesthesia, Case report, Anesthesiology, RD78.3-87.3

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2253Test

الوصول الحر: https://doaj.org/article/0bdbd8987f6a46928f450708266c1424Test

المؤلفون: Meiying Cai, Xianguo Fu, Liangpu Xu, Na Lin, Hailong Huang

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: smith-magenis syndrome, potocki-lupski syndrome, rare autosomal dominant, fetuses, copy number variant, SNP-array, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.779237/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/307ad49faa4d4a5b8862b50757583e1dTest

المؤلفون: Alina Grama, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: children, craniofacial dysmorphism, hypotonia, cognitive delay, 17p112 duplication, Potocki-Lupski syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.698629/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/225b30cb0e2e4f26930414ce59e158f4Test

المؤلفون: Pinto, Irene Plaza, Minasi, Lysa Bernardes, de Melo, Aldaires Vieira, e Cunha, Damiana Mírian da Cruz, Ribeiro, Cristiano Luiz, da Silva, Cláudio Carlos, da Cruz, Aparecido Divino

المصدر: Brazilian Journal of Development; v. 7, n. 9 (2021); 86886-86894 ; 2525-8761

مصطلحات موضوعية: CMA, Potocki-Lupski Syndrome, 17p11.2, Microduplication

وصف الملف: application/pdf

العلاقة: https://www.brazilianjournals.com/index.php/BRJD/article/view/35435/pdfTest; https://www.brazilianjournals.com/index.php/BRJD/article/view/35435Test

الإتاحة: https://doi.org/10.34117/bjdv7n9-039Test
https://www.brazilianjournals.com/index.php/BRJD/article/view/35435Test

المؤلفون: Antunes, Marta, Ferraz De Liz, Mariana, Correia, Zulmira

المصدر: NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 No. 1 (2023); 41-44
NASCER E CRESCER-BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 N.º 1 (2023); 41-44

مصطلحات موضوعية: alteração comportamental, intellectual disability, debilidade intelectual, healthy sibling, irmão saudável, síndrome Potocki-Lupski, behavior problem, Potocki-Lupski syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bcf6e8b2e7d6923800eb2df3d394483Test
https://revistas.rcaap.pt/nascercrescer/article/view/25110Test

المؤلفون: Zaira Morales, Gloria Martin-Lepe

المصدر: Clínica Contemporánea, Vol 11, Iss 2 (2020)

مصطلحات موضوعية: early care, single-case study, potocki-lupski syndrome, intervention, rare syndromes, Therapeutics. Psychotherapy, RC475-489, Psychology, BF1-990

وصف الملف: electronic resource

العلاقة: https://www.revistaclinicacontemporanea.org//art/cc2020a11Test; https://doaj.org/toc/1989-9912Test

الوصول الحر: https://doaj.org/article/133f5ca391334119a85ed8d49d0835c4Test