Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Didem Ardıçlı"'
Autor:
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
Abstract Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprot
Externí odkaz:
https://doaj.org/article/8caf97122a55476785146efefd7434e7
Publikováno v:
Malang Neurology Journal, Vol 8, Iss 2, Pp 88-93 (2022)
Background: Microcephaly is a condition that causes a reduction in brain volume as well as cognitive and motor impairments. It can be seen alone or in conjunction with a variety of genetic disorders and environmental factors. Microcephaly is still a
Externí odkaz:
https://doaj.org/article/26d1f9b112ec49d193ae7e099735dee6
Publikováno v:
Journal of Ankara University Faculty of Medicine. 75:544-549
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c256ad4e55a5e1ac9ca65f57fc20100
https://doi.org/10.4274/atfm.galenos.2022.87004
https://doi.org/10.4274/atfm.galenos.2022.87004
Autor:
Büşranur, Çavdarlı, Özlem Yayici, Köken, Saide Betül Arslan, Satılmış, Şule, Bilen, Didem, Ardıçlı, Ahmet Cevdet, Ceylan, Cavidan Nur Semerci, Gündüz, Haluk, Topaloğlu
Publikováno v:
Annals of Human Genetics. 87:104-114
Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole-exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adb22957c3e7845807875a0fb20f423
https://doi.org/10.1111/ahg.12492
https://doi.org/10.1111/ahg.12492
Publikováno v:
Neurology Asia. 27:427-432
Objective: This study aim to investigate children who were diagnosed with pseudotumor cerebri (PTC) from a tertiary hospital in Turkey. Methods: This was a retrospective study based on medical records of 16 children diagnosed with PTC. All patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a0884279ddd49927386340ffde59a9c
https://doi.org/10.54029/2022jsi
https://doi.org/10.54029/2022jsi
Publikováno v:
Acta neurologica Belgica. 122(2)
Tremor is an involuntary, rhythmic, oscillatory movement of body parts around a central point or plane which arises from contraction of antagonist muscles. Evaluation of pediatric patients with tremor can be challenging due to limited population-base
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1217e2ed1947f9327f882c995bb39f6f
https://pubmed.ncbi.nlm.nih.gov/34618342
https://pubmed.ncbi.nlm.nih.gov/34618342
Autor:
Nurgun Kandemir, Dogus Vuralli, Alev Ozon, Nazlı Gonc, Didem Ardicli, Lala Jalilova, Omer Nazim Gulcek, Ayfer Alikasifoglu
Publikováno v:
Journal of Diabetes, Vol 16, Iss 5, Pp n/a-n/a (2024)
Abstract Background Global variations in epidemiology of type 1 diabetes mellitus (T1DM) exist. This study is designed to examine demographic and clinical features of T1DM over the past 3 decades as well as evolving trends in epidemiology over last 5
Externí odkaz:
https://doaj.org/article/a8dfdacb5c674a91aa6756705a42d8df