Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Emine GÖKTAŞ"'
Autor:
Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A. Genetti, Abdulrahman A. Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco, Almundher Al-Maawali, Nadia Al Hashmi, Ayşe Gül Zamani, Emine Göktaş, Sevgi Pekcan, Hanife Tuğçe Çağlar, Heather True, Alan H. Beggs, Conrad C. Weihl
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-10 (2024)
Abstract Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive l
Externí odkaz:
https://doaj.org/article/e80b65429e294678b2ab23a55f25523b
Autor:
Emine Göktaş, Mahmut Selman Yıldırım
Publikováno v:
Van Tıp Dergisi, Vol 28, Iss 1, Pp 159-162 (2021)
Mutations of the SHOX gene are cause of various genetic growth disorders, ranging from isolated short stature to Leri-Weill Syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originall
Externí odkaz:
https://doaj.org/article/bacc852d02ad4c22bb75669272ff0e18
Autor:
Emine GÖKTAŞ, Reyhan AYAZ
Publikováno v:
Düzce Tıp Fakültesi Dergisi, Vol 22, Iss 1, Pp 7-12 (2020)
Amaç: Bu çalışmanın amacı, Sağlık Bilimleri Üniversitesi Van Eğitim ve Araştırma Hastanesi Perinatoloji Kliniğinde gerçekleştirilen amniyosentez ve koryon villus örneklemelerinin endikasyon ve karyotip sonuçlarının retrospektif ola
Externí odkaz:
https://doaj.org/article/ad3d2cd341474ad8b4b98aaf12ebbafc
Autor:
Betül Turan, Emine Göktaş, F. Mujgan Sönmez, Halil Ibrahim Aydin, Demet Aydogdu, Ayse Gul Zamani, Mahmut Selman Yildirim
Publikováno v:
Neurology and Clinical Neuroscience.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ca2e2502b418ba3800da2d75e6b4dd7
https://doi.org/10.1111/ncn3.12726
https://doi.org/10.1111/ncn3.12726
Autor:
Mahmut Selman Yıldırım, Emine Göktaş
Publikováno v:
Van Medical Journal. 28:159-162
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d7044832eff4ecf8dc09f6c4e7a0386
https://doi.org/10.5505/vtd.2021.34356
https://doi.org/10.5505/vtd.2021.34356
Autor:
Reyhan Ayaz, Emine Göktaş
Publikováno v:
Düzce Tıp Fakültesi Dergisi, Vol 22, Iss 1, Pp 7-12 (2020)
Aim: The aim of this study is to retrospectively evaluate the indications and karyotype results of amniocentesis and chorion villus sampling performed in Health Sciences University, Van Education and Research Hospital, Department of Perinatology.Mate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02253cbf481e8d174f1280f8ff1055c9
https://doi.org/10.18678/dtfd.631734
https://doi.org/10.18678/dtfd.631734
Publikováno v:
Haseki Tıp Bülteni, Vol 62, Iss 2, Pp 124-127 (2024)
Mantle cell lymphoma (MCL) is a subtype of mature B-cell non-Hodgkin lymphoma (NHL). Most cases exhibit CCDN1/IGH translocation; however, reports indicate that amplification of the fusion gene is extremely rare. A 72-year-old male patient diagnosed w
Externí odkaz:
https://doaj.org/article/818e2d4460b743759f0cb8fca256f94b
Publikováno v:
Acta clinica Croatica
Volume 59.
Issue 4.
Acta Clinica Croatica, Vol 59., Iss 4., Pp 582-588 (2020)
Acta Clinica Croatica
Volume 59.
Issue 4.
Acta Clinica Croatica, Vol 59., Iss 4., Pp 582-588 (2020)
Acta Clinica Croatica
The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiography
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::628e9d72cad096eb257aaabb8358864f
https://doi.org/10.20471/acc.2020.59.04.03
https://doi.org/10.20471/acc.2020.59.04.03
Publikováno v:
Medicine Science, Vol 10, Iss 3, Pp 1049-53 (2021)
Multiple Pterygium syndrome (MPS) is characterized by antecubital, popliteal pterygium, short stature, dysmorphic face, kyphoscoliosis, club foot, genital and cardiac malformations. Mutation in the acetylcholine nicotinergic receptor gamma polypeptid
Externí odkaz:
https://doaj.org/article/9fe9d7b389c442a981de421c9a2b3ef6
Publikováno v:
Acta Clinica Croatica, Vol 59., Iss 4., Pp 582-588 (2020)
The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiograph
Externí odkaz:
https://doaj.org/article/993e65d36ce3485699a9372318b83dfe