Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Banu Nur"'
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 3, Pp 302-306 (2022)
Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are alw
Externí odkaz:
https://doaj.org/article/f5be2ac4b44940639b36ff14a6d00104
Autor:
Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dyspla
Externí odkaz:
https://doaj.org/article/8bfb274a0fb7436e88718ddd08909e66
Autor:
Ilgin Yildirim Simsir, Beyhan Tuysuz, Mehmet Nuri Ozbek, Seher Tanrikulu, Merve Celik Guler, Asuman Nur Karhan, Yasemin Denkboy Ongen, Nilay Gunes, Utku Erdem Soyaltin, Canan Altay, Banu Nur, Servan Ozalkak, Ozlem Akgun Dogan, Fatma Dursun, Zafer Pekkolay, Mehmet Ali Eren, Yusuf Usta, Secil Ozisik, Basak Ozgen Saydam, Suleyman Cem Adiyaman, Mehmet Cagri Unal, Gokcen Gungor Semiz, Ihsan Turan, Erdal Eren, Hulya Kayserili, Isabelle Jeru, Corinne Vigouroux, Tahir Atik, Huseyin Onay, Samim Ozen, Elif Arioglu Oral, Baris Akinci
Aim: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. Methods: This study reports on 72 patients with GL (47 families) registered at different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b8d0fd4a5c946862cce5364ffbbd6bd
https://avesis.deu.edu.tr/publication/details/497e612a-1225-4cce-8c09-189e93672690/oai
https://avesis.deu.edu.tr/publication/details/497e612a-1225-4cce-8c09-189e93672690/oai
Autor:
Gokcen Karamik, Beyhan Tuysuz, Esra Isik, Aysegul Yilmaz, Yasemin Alanay, Evrim Cifci Sunamak, Enise Avci Durmusalioglu, Ferda Ozkinay, Gokhan Ozan Cetin, Nuray Ozturk, Ercan Mihci, Banu Nur
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
null Ilgin Yildirim Simsir, null Beyhan Tuysuz, null Mehmet Nuri Ozbek, null Seher Tanrikulu, null Merve Celik Guler, null Asuman Nur Karhan, null Yasemin Denkboy Ongen, null Nilay Gunes, null Utku Erdem Soyaltin, null Canan Altay, null Banu Nur, null Servan Ozalkak, null Ozlem Akgun Dogan, null Fatma Dursun, null Zafer Pekkolay, null Mehmet Ali Eren, null Yusuf Usta, null Secil Ozisik, null Basak Ozgen Saydam, null Suleyman Cem Adiyaman, null Mehmet Cagri Unal, null Gokcen Gungor Semiz, null Ihsan Turan, null Erdal Eren, null Hulya Kayserili, null Isabelle Jeru, null Corinne Vigouroux, null Tahir Atik, null Huseyin Onay, null Samim Ozen, null Elif A. Oral, null Baris Akinci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01db91016594b1eb67c4f96799aa4507
https://doi.org/10.1111/dom.15061/v2/response1
https://doi.org/10.1111/dom.15061/v2/response1
Autor:
Durkadin Demir Eksi, Elanur Yilmaz, A. Erdem Basaran, Gizem Erduran, Banu Nur, Ercan Mihci, Bulent Karadag, Aysen Bingol, Ozgul M. Alper
Objectives To determine the demographic, clinical, and genetic profile of Turkish Caucasian PCD cases. Methods Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed in 21 unrelated PCD cases. Sanger sequencing confirmed of pot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::559621d1e5f2e6ea19c412c44d68a243
https://hdl.handle.net/11424/287645
https://hdl.handle.net/11424/287645
Autor:
Yunus Arikan, Sibel Berker Karauzum, Hilmi Uysal, Ercan Mihci, Banu Nur, Ozgur Duman, Senay Haspolat, Ozden Altiok Clark, Asli Toylu
Publikováno v:
Gene. 823
SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of t
Autor:
Affan, Banu Nur1 banu.affan@students.unnes.ac.id, Suryanto, Agus1 agusku2@mail.unnes.ac.id, Arfriandi, Arief1 arfriandi@mail.unnes.ac.id
Publikováno v:
Telkomnika. Aug2018, Vol. 16 Issue 4, p1818-1825. 8p.
Autor:
ÇELİKYURT, Uğur1 ucelikyurt@ku.edu.tr, DÖNMEZ, Banu Nur1 bdonmez@ku.edu.tr
Publikováno v:
Journal of Accounting & Finance / Muhasebe ve Finansman Dergisi. Jul2017, Issue 75, p207-228. 22p.
Publikováno v:
Rekayasa Mesin, Vol 14, Iss 2, Pp 463-474 (2023)
Utilization and management of Empty Fruit Bunches (EFB) fibre continue to develop as the main ingredient and additional material used in various industrial products. The technological breakthrough targeted in this study is the developed EFB fibre as
Externí odkaz:
https://doaj.org/article/fc27dad094c44a0fafde1a003351ec02