Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gulshan Yunisova"'
Autor:
Gulshan Yunisova, Ayfer Arduç Akçay, Şahin Avci, Serpil Eraslan, Hülya Kayserili, Piraye Oflazer
Publikováno v:
Sunday, April 23.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f16eb3eb7c33fcf76bc8c827a37bad9
https://doi.org/10.1212/wnl.0000000000203759
https://doi.org/10.1212/wnl.0000000000203759
Autor:
Sude Çavdaroğlu, İlayda Altun, Elif Bilge Atasay, Gulshan Yunisova, Piraye Oflazer, Gülbüz Sezgin
Publikováno v:
Journal of Rare Diseases. 2
Porphyrias are a cluster of inherited metabolic diseases. Acute intermittent porphyria (AIP) is inherited autosomal dominantly that presents with multi-systemic symptoms and acute repetitive attacks in any age of lifespan. Spinal muscular atrophy (SM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49bc3edd0a3f6ff602bf5d3c32157be1
https://doi.org/10.1007/s44162-023-00007-w
https://doi.org/10.1007/s44162-023-00007-w
Autor:
Sinem Iliaz, Gulshan Yunisova, Ozgur Oztop Cakmak, Ozlem Celebi, Eser Bulus, Arda Duman, Mesut Bayraktaroglu, Piraye Oflazer
Publikováno v:
Respiratory medicine. 200
The patients with neuromuscular diseases (NMD) are very fragile and it is hard to evaluate respiratory involvement of the primary disease in this group. Therefore, our study aimed to reveal the relationship between pulmonary function tests (PFT) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a1a6e1dd429ddbbc0a1f53ff506104
https://pubmed.ncbi.nlm.nih.gov/35858508
https://pubmed.ncbi.nlm.nih.gov/35858508
Autor:
Gulshan Yunisova, Serdar Ceylaner, Piraye Oflazer, Feza Deymeer, Yesim Gülşen Parman, Hacer Durmus
Publikováno v:
Neuromuscular disorders : NMD. 32(9)
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder usually presenting in childhood with early contractures, slowly progressive scapulohumeroperoneal weakness/atrophy and potentially fatal dilated cardiomyopathy with conduction defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c1434014ab7dee8b6f414fea89446e
https://pubmed.ncbi.nlm.nih.gov/35922275
https://pubmed.ncbi.nlm.nih.gov/35922275
Autor:
Okan Dogu, Hasmet Hanagasi, Sukriye Akca Kalem, Gulshan Yunisova, Başar Bilgiç, Hakan Gurvit, Zeynep Tufekcioglu, Ebba Lohmann, Hakan Kaleagasi, Murat Emre
Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d0466cfcb7c681e1a2943163b198ef
https://aperta.ulakbim.gov.tr/record/3107
https://aperta.ulakbim.gov.tr/record/3107
Autor:
Yesim Parman, Arman Çakar, Gulshan Yunisova, Ayse Candayan, A. Nazli Basak, Esra Battaloglu, Hacer Durmus
Publikováno v:
Neurogenetics. 21(1)
Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from consanguineous parents presenting with a CMT-like phenotype who carry a homozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030ae525e1f6e06ec13f92250de1d7e1
https://pubmed.ncbi.nlm.nih.gov/31673878
https://pubmed.ncbi.nlm.nih.gov/31673878
Publikováno v:
Headache: The Journal of Head and Face Pain. 57:1152-1153
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a620a5361e97d769ef997a5ffe083643
https://doi.org/10.1111/head.13125
https://doi.org/10.1111/head.13125