Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gönül Büyükyılmaz"'
Autor:
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 34-43 (2021)
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuro
Externí odkaz:
https://doaj.org/article/98ad2c4ca25547f1b7b9db3e4bc101ad
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 36:435-440
Objectives The Internet, an integral part of modern life, can lead to internet addiction, which negatively affects academic performance, family relationships, and emotional development. This study aimed to evaluate the Internet addiction scores (IAS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45903b1c6b513fa12577dd1c1a9a2da5
https://doi.org/10.1515/jpem-2022-0640
https://doi.org/10.1515/jpem-2022-0640
Autor:
Nancy Keller, Julian Midgley, Ehtesham Khalid, Harry Lesmana, Georgie Mathew, Christine Mincham, Norbert Teig, Zubair Khan, Indu Khosla, Sam Mehr, Tulay Guran, Kathrin Buder, Hong Xu, Khalid Alhasan, Gonul Buyukyilmaz, Nicole Weaver, Julie D. Saba
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized inborn error of metabolism associated with steroid-resistant nephrotic syndrome as well as adrenal insufficiency and immunological, neurological
Externí odkaz:
https://doaj.org/article/001681b6efb54f18aee01a6b8c1590c9
Autor:
Cemal Çavdarli, Gönül Büyükyılmaz, Büşranur Çavdarlı, Sebile Çomçalı, Pınar Topçu Yılmaz, Mehmet Numan Alp
Background: Several structural, vascular density and perfusion studies were conducted in type 1 and 2 diabetes, even in the absence of retinopathy. The current study is the first to compare macular vessel densities (VD) by optical coherence tomograph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89359cfc7ab23b5d54d500f426bdd786
https://doi.org/10.21203/rs.3.rs-2495369/v1
https://doi.org/10.21203/rs.3.rs-2495369/v1
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1115-1121
Objectives Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of NPR2, which encodes a cartilage regulator C-type natriuretic peptide receptor B. NPR2 variations impai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7be9354fea8216082fe8fc53b9947462
https://doi.org/10.1515/jpem-2021-0055
https://doi.org/10.1515/jpem-2021-0055
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEMReferences. 34(9)
Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations ofWe performed detailed clinical and radiological evaluation and sequence analysis forHerein, we report nine patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b000604b95a25b345176762a5687b53a
https://pubmed.ncbi.nlm.nih.gov/34162036
https://pubmed.ncbi.nlm.nih.gov/34162036
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 21, Iss 4, Pp 230-234 (2016)
Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our
Externí odkaz:
https://doaj.org/article/6551c73b56d541f29bed2f628f7a9883