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1دورية أكاديمية
المؤلفون: Cristina Toledo‐Gotor, Cristina García‐Muro, Alberto García‐Oguiza, Mª. Luisa Poch‐Olivé, Mª. Yolanda Ruiz‐del Prado, Elena Domínguez‐Garrido
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: 10p deletion, array CGH, DeSanto‐Shinawi syndrome, global developmental delay, WAC, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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2دورية أكاديمية
المؤلفون: Yu-qing Pan, Jian-hua Fu
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: 10p deletion, copy number variation, feeding difficulty, hypocalcemia, psychomotor retardation, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.603666/fullTest; https://doaj.org/toc/2296-2360Test
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المؤلفون: Wentzel, Christian, 1976
المساهمون: Thuresson, Ann-Charlotte, Docent, Annerén, Göran, Professor, Rauch, Anita, Professor
المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.
مصطلحات موضوعية: intellectual disability, 22q11.2 duplication syndrome, 6q deletion, 6q duplication, 10p deletion, developmental delay, mental retardation, dysmorphic features, Medical Genetics, Medicinsk genetik
وصف الملف: electronic
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المؤلفون: Yu-qing Pan (10192043), Jian-hua Fu (10192046)
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, 10p deletion, copy number variation, feeding difficulty, hypocalcemia, psychomotor retardation
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5دورية أكاديمية
المؤلفون: MacDonald, Alexandra, Martinez-Fernandez, Maria Luisa, Aceña, María Isabel, Serrano Madrid, ML, Romero-Gil, R, Bermejo-Sanchez, Eva, Martínez-Frías, María Luisa
مصطلحات موضوعية: Deleción 10p, Síndrome, DiGeorge 2, HDR, GATA3, 10p deletion, Syndrome
العلاقة: Boletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 2): 57-71; 0210–3893; http://hdl.handle.net/20.500.12105/14097Test; Boletín del ECEMC: Revista de Dismorfología y Epidemiología
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6دورية أكاديمية
المؤلفون: Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann Charlotte
المساهمون: Dept of Immunology, Genetics and Pathology, University of British Columbia (UBC), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Henri Mondor Créteil, Hôpital Jeanne de Flandre Lille, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Umeå University, Sweden, Division of Medical Genetics,Victoria General Hospital, Victoria, BC, Funding agencySavstaholm SocietyBorgstrom FoundationFoundation Jerome LejeuneCanadian Institutes of Health Research (CIHR)Michael Smith Foundation for Health Research
المصدر: ISSN: 1018-4813.
مصطلحات موضوعية: 10p deletion, developmental delay, WAC, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21522184; hal-00636187; https://hal.science/hal-00636187Test; https://hal.science/hal-00636187/documentTest; https://hal.science/hal-00636187/file/PEER_stage2_10.1038%252Fejhg.2011.71.pdfTest; PUBMED: 21522184; PUBMEDCENTRAL: PMC3179368; WOS: 000294003100009
الإتاحة: https://doi.org/10.1038/ejhg.2011.71Test
https://hal.science/hal-00636187Test
https://hal.science/hal-00636187/documentTest
https://hal.science/hal-00636187/file/PEER_stage2_10.1038%252Fejhg.2011.71.pdfTest -
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المؤلفون: MacDonald, Alexandra, Martinez-Fernandez, Maria Luisa, Aceña, María Isabel, Serrano Madrid, ML, Romero-Gil, R, Bermejo-Sanchez, Eva, Martínez-Frías, María Luisa
المصدر: Repisalud
Instituto de Salud Carlos III (ISCIII)مصطلحات موضوعية: GATA3, Deleción 10p, DiGeorge 2, HDR, 10p deletion, Syndrome, Síndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::108a17a4d45dd2b0d355d27e1c27c7f8Test
https://hdl.handle.net/20.500.12105/14097Test -
8دورية أكاديمية
المصدر: Sri Lanka Journal of Child Health; Vol 43, No 3 (2014); 171-173
مصطلحات موضوعية: Paediatrics, 10p deletion, partial DiGeorge syndrome, Sri Lankan infant
وصف الملف: application/pdf
العلاقة: http://www.sljol.info/index.php/SLJCH/article/view/7381/5711Test; http://www.sljol.info/index.php/SLJCH/article/view/7381Test
الإتاحة: https://doi.org/10.4038/sljch.v43i3.7381Test
http://www.sljol.info/index.php/SLJCH/article/view/7381Test -
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مصطلحات موضوعية: 10p deletion, developmental delay, WAC
العلاقة: 1476-5438 (eISSN); 1018-4813 (ISSN); 1018-4813.876-10-EJHG; 876-10-EJHGRRR (manuscript); http://hdl.handle.net/2262/60338Test; European Journal of Human Genetics; ejhg (publisher-id)
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10دورية أكاديمية
المؤلفون: Verri, A, Maraschio, P, Devriendt, Koenraad, Uggetti, C, Spadoni, E, Haeusler, E, Federico, A
مصطلحات موضوعية: 10p deletion, hdr, mental retardation, autism, renal dysplasia syndrome, partial monosomy 10p, digeorge-syndrome, sensorineural deafness, hdr syndrome, phenotypic spectrum, behavior checklist, gata3, region, disorders
العلاقة: Annales de Génétique vol:47 issue:3 pages:281-287; https://lirias.kuleuven.be/handle/123456789/224054Test; http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=DOISource&SrcApp=PRODUCT_NAME&KeyAID=10.1016%2Fj.anngen.2004.03.001&DestApp=DOI&SrcAppSID=APP_SID&SrcJTitle=WURS_TITLETest
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