E-LIB Suche - Ergebnisse für: Toksoy, Guven

1

Clinical and molecular characteristics of 26 fetuses with l..:

Turgut, Gozde Tutku ; Altunoglu, Umut ; Gulec, Cagri...
Clinical Genetics. 105 (2024) 6 - p. 596-610 , 2024

Link: https://doi.org/10.1111/..

2

Clinical and bi-genomic DNA findings of patients suspected ..:

Gedikbasi, Asuman ; Toksoy, Guven ; Karaca, Meryem...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Phenotype-Genotype Correlations of GH1 Gene Variants in Pat..:

Öztürk, Ayşe Pınar ; Yavas Abali, Zehra ; Aslanger, Ayça Dilruba...
Hormone Research in Paediatrics. 97 (2023) 2 - p. 126-133 , 2023

Link: https://doi.org/10.1159/..

4

A Novel RNPC3 Gene Variant Expands the Phenotype in Patient..:

Yavas Abali, Zehra ; Gokpinar Ili, Ezgi ; Bas, Firdevs...
Hormone Research in Paediatrics. 97 (2023) 2 - p. 157-164 , 2023

Link: https://doi.org/10.1159/..

5

Novel GALT variations and genetic spectrum in Turkish popul..:

Kalay, Irem ; Gulec, Cagri ; Balcı, Mehmet Cihan...
Annals of Human Genetics. 87 (2023) 6 - p. 285-294 , 2023

Link: https://doi.org/10.1111/..

6

Functional loss of ubiquitin‐specific protease 14 may lead ..:

Turgut, Gozde Tutku ; Altunoglu, Umut ; Sivrikoz, Tugba Sarac...
Clinical Genetics. 101 (2022) 4 - p. 421-428 , 2022

Link: https://doi.org/10.1111/..

7

Osteogenesis imperfecta in 140 Turkish families: Molecular ..:

Tüysüz, Beyhan ; Elkanova, Leyla ; Uludağ Alkaya, Dilek...
Bone. 155 (2022) - p. 116293 , 2022

Link: https://doi.org/10.1016/..

8

Skeletal and molecular findings in 51 Cleidocranial dysplas..:

Berkay, Ezgi Gizem ; Elkanova, Leyla ; Kalaycı, Tuğba...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2488-2495 , 2021

Link: https://doi.org/10.1002/..

9

Clinical and molecular genetic findings of hereditary Parki..:

Emekli, Inci ; Tepgeç, Fatih ; Samancı, Bedia...
Parkinsonism & Related Disorders. 93 (2021) - p. 35-39 , 2021

Link: https://doi.org/10.1016/..

10

Clinical and Molecular Genetic Findings of Cerebral Arterio..:

Rüstemoğlu, Burcu Sevinç ; Samanci, Bedia ; Tepgeç, Fatih...
Turkish Journal Of Neurology. 27 (2021) 3 - p. 240-247 , 2021

Link: https://doi.org/10.4274/..

11

Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings w..:

Yuruk Yildirim, Zeynep ; Toksoy, Guven ; Uyguner, Oya...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103621 , 2020

Link: https://doi.org/10.1016/..

12

Cognition of the mothers of patients with Duchenne muscular..:

Demirci, Hasan ; Durmus, Hacer ; Toksoy, Guven...
Muscle & Nerve. 62 (2020) 6 - p. 710-716 , 2020

Link: https://doi.org/10.1002/..

13

Mutation spectrum and pivotal features for differential dia..:

Tüysüz, Beyhan ; Alkaya, Dilek Uludağ ; Toksoy, Güven...
Gene. 704 (2019) - p. 59-67 , 2019

Link: https://doi.org/10.1016/..

14

Utilization of neurosonography for evaluation of the corpus..:

Turkyilmaz, Gurcan ; Sarac Sivrikoz, Tugba ; Erturk, Emircan...
Journal of Obstetrics and Gynaecology Research. 45 (2019) 8 - p. 1472-1478 , 2019

Link: https://doi.org/10.1111/..

15

Clinical and Genetic Investigation of Premature Ovarian Ins..:

Oral, Engin ; Toksoy, Guven ; Sofiyeva, Nigar...
Journal of Gynecology Obstetrics and Human Reproduction. 48 (2019) 10 - p. 817-823 , 2019

Link: https://doi.org/10.1016/..