E-LIB Suche - Ergebnisse für: Atik, Tahir

1

Genetic heterogeneity in hereditary hearing loss: Potential..:

Ramzan, Memoona ; Zafeer, Mohammad Faraz ; Abad, Clemer...
European Journal of Human Genetics. 32 (2024) 6 - p. 639-646 , 2024

Link: https://doi.org/10.1038/..

2

The Utility of Genetic Testing in Infantile Epileptic Spasm..:

Kanmaz, Seda ; Yılmaz, Sanem ; Olculu, Cemile Büşra...
Pediatric Neurology. 157 (2024) - p. 100-107 , 2024

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

3

Further defining the molecular spectrum and long‐term follo..:

Akalın, Akçahan ; Ayaz, Ercan ; Soğukpınar, Merve...
American Journal of Medical Genetics Part A. , 2024

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

4

O-09 A rare cause of acute pancreatitis: Werner Syndrome:

Şakar, Kenan ; Akıncı, Barış ; Yıldırım Şimşir, Ilgın...
JCEM Case Reports. 2 (2024) Supplement_1 - p. , 2024

Link: https://doi.org/10.1210/..

5

Association between vitamin D receptor gene FokI polymorphi..:

Bozgul, Sukriye Miray Kilincer ; Emecen, Durdugul Ayyildiz ; Akarca, Funda Karbek...
Molecular Biology Reports. 51 (2023) 1 - p. , 2023

Link: https://doi.org/10.1007/..

6

Clinical features of generalized lipodystrophy in Turkey: A..:

Yildirim Simsir, Ilgin ; Tuysuz, Beyhan ; Ozbek, Mehmet Nuri...
Diabetes, Obesity and Metabolism. 25 (2023) 7 - p. 1950-1963 , 2023

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

7

Molecular diagnosis in patients with monogenic diabetes mel..:

Goksen, Damla ; Evin, Ferda ; Isik, Esra...
Diabetes Research and Clinical Practice. 205 (2023) - p. 110953 , 2023

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

8

Genome sequencing identifies coding and non-coding variants..:

Ramzan, Memoona ; Duman, Duygu ; Hendricks, LeShon Chere Peart...
Journal of Human Genetics. 68 (2023) 10 - p. 657-669 , 2023

Link: https://doi.org/10.1038/..

9

Pelvis Magnetic Resonance Imaging to Diagnose Familial Part..:

Adiyaman, Suleyman Cem ; Altay, Canan ; Kamisli, Berfu Y...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 8 - p. e512-e520 , 2023

Link: https://doi.org/10.1210/..

10

C20orf24: A potential novel gene responsible for Cerebrofac..:

Isik, Esra ; Emecen, Durdugul Ayyildiz ; Atik, Tahir..
European Journal of Medical Genetics. 65 (2022) 11 - p. 104621 , 2022

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

11

LSM1 is the new candidate gene for neurodevelopmental disor..:

Kok Kilic, Gizem ; Isik, Esra ; Alpay, Omer...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104610 , 2022

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

12

Evaluation of social cognition, autistic traits, and dysmor..:

Ozbaran, Nazli Burcu ; Ozyasar, Senay Celenay ; Dogan, Nurhak...
Clinical Child Psychology and Psychiatry. 27 (2022) 4 - p. 991-1005 , 2022

Link: https://doi.org/10.1177/..

13

Mutation spectrum of the NF1 gene and genotype–phenotype co..:

Ece Solmaz, Asli ; Isik, Esra ; Atik, Tahir..
Clinical Neurology and Neurosurgery. 208 (2021) - p. 106884 , 2021

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

14

SURF1 related Leigh syndrome: Clinical and molecular findin..:

Kose, Melis ; Canda, Ebru ; Kagnici, Mehtap...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100657 , 2020

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

15

Factor 8 Gene Mutation Spectrum of 270 Patients with Haemop..:

Atik, Tahir ; Işık, Esra ; Onay, Hüseyin...
Turkish Journal of Hematology. , 2020

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