Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Burcu Yeter"'
1
Akademický článek
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
Autor: Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu
Publikováno v: JCRPE, Vol 14, Iss 4, Pp 475-480 (2022)
Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imp
Externí odkaz: https://doaj.org/article/6ee0abfd42034b1595eb07cb5439a834
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2
Akademický článek
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3
Akademický článek
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5
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
Autor: Nursel Elcioglu, Ayca Dilruba Aslanger, Burcu Yeter, Gozde Yesil
Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. 14:475-480
Odontochondrodysplasia (ODCD, OMIM #184260) is a quite rare non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e3fe1e02d120d9b003f671c82ce1567
https://doi.org/10.4274/jcrpe.galenos.2021.2021.0099
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6
Akademický článek
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7
A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome
Autor: Burcu Yeter Doğan, Neslihan Günay, Yasin Ada, Muhammet Ensar Doğan
Publikováno v: American journal of medical genetics. Part AREFERENCES. 191(1)
© 2022 Wiley Periodicals LLC.Until recently, mandibuloacral dysplasia (MAD) with type A and type B lipodystrophy was the first to come to mind in the association of mandibular hypoplasia, lipodystrophy, and acro-osteolysis. However, it has recently
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2435cf94e2287fe008a74cb97fcc513a
https://pubmed.ncbi.nlm.nih.gov/36269149
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8
A Novel Mutation in the
Autor: Burcu, Yeter, Ayca, Dilruba Aslanger, Gözde, Yeşil, Nursel H., Elçioğlu
Publikováno v: Journal of clinical research in pediatric endocrinology. 14(4)
Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7894bc18496b7a9dcd87a89b9d6ef6ad
https://pubmed.ncbi.nlm.nih.gov/34111908
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9
From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients
Autor: Nursel Elcioglu, Hatice Mutlu Albayrak, Burcu Yeter, Kadri Karaer
Publikováno v: American journal of medical genetics. Part AREFERENCES. 185(8)
Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to ev
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a957bd51e66040fa152737d5f71056a
https://pubmed.ncbi.nlm.nih.gov/33951304
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10
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
Autor: Janine Altmüller, Nursel Elcioglu, Angela Köninger, Bernd Wollnik, Adela Della Marina, Frank J. Kaiser, Burcu Yeter, Gökhan Yigit, Carolina Martínez Grijalva, Anja Stein, Christel Depienne, Ute Hehr, Holger Thiele, Peter Nürnberg, Katharina Khuller, Alma Kuechler
Publikováno v: European journal of medical genetics. 64(10)
MFSD2A, a member of the major facilitator superfamily (MFS), is a transmembrane transporter responsible for the uptake of specific essential fatty acids through the blood-brain barrier (BBB) to the brain. The transporter is crucial for early embryoni
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376402307641ec337bbaf705064ae666
https://pubmed.ncbi.nlm.nih.gov/34400370
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