المؤلفون: Ioana Streață, Alexandru Caramizaru, Anca-Lelia Riza, Simona Șerban-Sosoi, Andrei Pîrvu, Monica-Laura Cara, Mihai-Gabriel Cucu, Amelia Mihaela Dobrescu, Ro-NMCA-ID Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology “V. Gomoiu” Hospital Group, Elena-Silvia Shelby, Adriana Albeanu, Florin Burada, Mihai Ioana

المصدر: Diagnostics, Vol 12, Iss 12, p 3137 (2022)

مصطلحات موضوعية: intellectual disability, global developmental delay, microdeletion/microduplication, CNV, chromosome microarray analysis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/12/12/3137; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/09c88a287b2a4ef8af2ea46572d5411f

المؤلفون: Streață I; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Caramizaru A; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.; Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Riza AL; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Șerban-Sosoi S; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Pîrvu A; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Cara ML; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Department of Public Health, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Cucu MG; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Dobrescu AM; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Ro-Nmca-Id Group; The Ro-NMCA-ID (RoNetwork Multiple Congenital Abnormalities with ID) Member of European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516], 400011 Timisoara, Romania., CExBR Pediatric Neurology Obregia Group; Pediatric Neurology Rare Disease Expertise Center Obregia, Sos. Berceni nr. 10, Sector 4, 041914 Bucuresti, Romania., CExBR Pediatric Neurology V Gomoiu Hospital Group; Center for Expertise in Rare Diseases in Pediatric Neurology, Pediatric Neurology Clinical Department, Children's Clinical Hospital 'Dr. Victor Gomoiu', 022102 Bucharest, Romania., Shelby ES; National University Center for Children's Neurorehabilitation 'Dr. Nicolae Robănescu', 44 Dumitru Mincă Street, District 4, 041408 Bucharest, Romania., Albeanu A; Department of Pediatric Neurology, Clinical Emergency Children Hospital Brasov, Nicopole Street No. 45, 500063 Brasov, Romania., Burada F; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania., Ioana M; Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.; Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.

المصدر: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2022 Dec 12; Vol. 12 (12). Date of Electronic Publication: 2022 Dec 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101658402 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4418 (Print) Linking ISSN: 20754418 NLM ISO Abbreviation: Diagnostics (Basel) Subsets: PubMed not MEDLINE