Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Gülsüm KAYHAN"'
Publikováno v:
JCRPE, Vol 12, Iss 3, Pp 308-314 (2020)
The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost n
Externí odkaz:
https://doaj.org/article/a455cf3bc9a14e91819453abcf77f76b
Publikováno v:
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi. 85:279-284
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9efd852b689646f056a0030f5909349
https://doi.org/10.26650/iuitfd.1038997
https://doi.org/10.26650/iuitfd.1038997
Publikováno v:
Turkiye Klinikleri Journal of Case Reports. 30:258-262
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5c633600048a9e2dda30a5ac7806fdb
https://doi.org/10.5336/caserep.2022-89352
https://doi.org/10.5336/caserep.2022-89352
Autor:
Halis Özdemir, Deniz Karçaaltıncaba, Gülsüm Kayhan, PınarTokdemir Çalış, Esra Tuğ, MehmetZeki Taner, Merih Bayram, MeralYirmibeş Karaoğuz
Publikováno v:
Singapore Medical Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17395e08aa84b6d181fcc2d41cee627b
https://doi.org/10.4103/singaporemedj.smj-2020-534
https://doi.org/10.4103/singaporemedj.smj-2020-534
Autor:
Demet, Teker Düztaş, Sinan, Sarı, Ödül, Eğritaş Gürkan, Gülsüm, Kayhan, Aydın, Dalgıç, Buket, Dalgıç
Publikováno v:
Experimental and Clinical Transplantation. 20:115-117
Ciliopathies are a heterogeneous group of diseases that are observed after deterioration of the ciliary structures on the cell surface that facilitate communication with the environment. Both liver and kidney involvement are frequently observed in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::912b38642ee7b9d75cba6db4acf63827
https://doi.org/10.6002/ect.pediatricsymp2022.o37
https://doi.org/10.6002/ect.pediatricsymp2022.o37
Autor:
Erkan Yurtcu, Pinar Calis, Gülsüm Kayhan, Hasan Hüseyin Kazan, Tuğrul Kaymak, Merih Bayram, Mustafa N. Ilhan, Sezen Guntekin Ergun, Gamze Özçürümez Bilgili, Deniz Karcaaltincaba, Halis Özdemir, Ferda Percin, Meral Yirmibeş Karaoğuz, Mehmet Ali Ergun
Publikováno v:
Turkish Journal of Medical Sciences
Background/aim: Prenatal diagnosis is vital to obtain healthy generation for risky pregnancies. There have been several approaches, some of which are routinely applied in clinics to evaluate the possible prenatal deficiencies and/or diseases. In the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe80e8e1fbf8ead9cf50cfdcccc1c5c8
https://doi.org/10.3906/sag-2009-347
https://doi.org/10.3906/sag-2009-347
Publikováno v:
Molecular biology reports. 48(11)
Background Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal microarrays (CMAs) as first-tier genetic tests. This study's first aim was to determine the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f597556f3d6ead7beabb26912e4069e4
https://pubmed.ncbi.nlm.nih.gov/34637094
https://pubmed.ncbi.nlm.nih.gov/34637094
Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::041b606b25601c4692e82f012d17d254
https://avesis.deu.edu.tr/publication/details/c6d7a645-d3d7-4b25-a4b3-40c1c3882f10/oai
https://avesis.deu.edu.tr/publication/details/c6d7a645-d3d7-4b25-a4b3-40c1c3882f10/oai
Publikováno v:
Genetic Testing and Molecular Biomarkers. 22:474-480
Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.In the present st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a8a5c66cca38662c63f3ad2c4d1ee0
https://doi.org/10.1089/gtmb.2017.0286
https://doi.org/10.1089/gtmb.2017.0286
Roberts/SC phocomelia syndrome (RBS/SC) is a rare autosomal recessive inherited condition characterized by prenatal-onset growth retardation, craniofacial anomalies, and symmetrical limb reduction defects. Here, we present two affected siblings with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5fe6d3f2af7c6d08896c5105bcc9a9c
https://avesis.gazi.edu.tr/publication/details/33305abd-b979-4764-ac63-0be277d21238/oai
https://avesis.gazi.edu.tr/publication/details/33305abd-b979-4764-ac63-0be277d21238/oai