E-LIB Suche - Ergebnisse für: Demir, Selma

1

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cas..:

Yalcintepe, Sinem ; Karal, Yasemin ; Demir, Selma...
Global Medical Genetics. 10 (2023) 2 - p. 117-122 , 2023

2

Prenatal diagnosis and molecular cytogenetic characterizati..:

Atli, Emine Ikbal ; Atli, Engin ; Inan, Cihan...
Taiwanese Journal of Obstetrics and Gynecology. 61 (2022) 3 - p. 504-509 , 2022

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

3

Investigation on the Effects of Modifying Genes on the Spin..:

Zhuri, Drenushe ; Gurkan, Hakan ; Eker, Damla...
Global Medical Genetics. 9 (2022) 3 - p. 226-236 , 2022

Link: https://doi.org/10.1055/..

4

Customised targeted massively parallel sequencing enables m..:

Atli, Emine Ikbal ; Atli, Engin ; Yalcintepe, Sinem...
Internal Medicine Journal. 52 (2022) 7 - p. 1174-1184 , 2022

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

5

Investigating the Genetic Etiology of Pediatric Patients wi..:

Eker, Damla ; Gurkan, Hakan ; Karal, Yasemin...
Global Medical Genetics. 9 (2022) 3 - p. 200-207 , 2022

Link: https://doi.org/10.1055/..

6

Germline Pathogenic Variants Identified by Targeted Next-Ge..:

Yalcintepe, Sinem ; Gurkan, Hakan ; Korkmaz, Fatma Nur...
Journal of Kidney Cancer and VHL. 8 (2021) 1 - p. 19-24 , 2021

Link: https://doi.org/10.15586..

7

Investigation of Genetic Alterations in Congenital Heart Di..:

Atli, Emine Ikbal ; Atli, Engin ; Yalcintepe, Sinem...
Global Medical Genetics. 9 (2021) 1 - p. 029-033 , 2021

Link: https://doi.org/10.1055/..

8

Clinical Features of Aberrations Chromosome 22q: A Pilot St..:

Atli, Emine Ikbal ; Atli, Engin ; Yalcintepe, Sinem...
Global Medical Genetics. 9 (2021) 1 - p. 042-050 , 2021

Link: https://doi.org/10.1055/..

9

Investigation the etiology of syndromic autism with targete..:

Yalcintepe, Sinem ; Gurkan, Hakan ; Demir, Selma...
Annals of Medical Research. 28 (2021) 12 - p. 2174 , 2021

Link: https://doi.org/10.5455/..

10

Targeted next-generation sequencing as a diagnostic tool in..:

Yalcintepe, Sinem ; Gurkan, Hakan ; Demir, Selma...
Tumori Journal. 106 (2020) 6 - p. 510-517 , 2020

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

11

THE IMPORTANCE OF TARGETED NEXT-GENERATION SEQUENCING USAGE..:

Atli, Emine ; Gurkan, Hakan ; Atli, Engin...
Mediterranean Journal of Hematology and Infectious Diseases. 13 (2020) 1 - p. e2021013 , 2020

Link: https://doi.org/10.4084/..

12

Two Novel Pathogenic FBN1 Variations and Their Phenotypic R..:

Yalcintepe, Sinem ; Demir, Selma ; Atli, Emine Ikbal...
Global Medical Genetics. 7 (2020) 2 - p. 068-071 , 2020

Link: https://doi.org/10.1055/..

13

A Child with 5q Deletion and Accompanying Chiari 1 Malforma..:

Atli, Emine Ikbal ; Yalcintepe, Sinem ; Atli, Engin..
The Indian Journal of Pediatrics. 87 (2020) 9 - p. 766-766 , 2020

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

14

Electrocardiographic Associations Seen with Obstructive Sle..:

Shankar, Shyam ; Gupta, Sushilkumar Satish ; Rojas-Marte, Geurys...
Sleep Disorders. 2019 (2019) - p. 1-5 , 2019

Link: https://doi.org/10.1155/..

15

FOXF2is required for cochlear development in humans and mic:

Bademci, Guney ; Abad, Clemer ; Incesulu, Armagan...
Human Molecular Genetics. 28 (2018) 8 - p. 1286-1297 , 2018

Link: https://doi.org/10.1093/..