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1 . Academic Journal
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
저자
by
Sinem Yalcintepe
;
Yasemin Karal
;
Selma Demir
;
Emine Ikbal Atli
;
Engin Atli
, et al.
소스
Global Medical Genetics, Vol 10, Iss 02, Pp 117-122 (2023)
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7 . Academic Journal
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
저자
by
Engin Atlı
;
Hakan Gürkan
;
Babürhan Güldiken
;
Damla Eker
;
Sinem Yalçıntepe
, et al.
소스
Balkan Medical Journal, Vol 40, Iss 1, Pp 13-20 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
저자
by
Drenushe Zhuri
;
Hakan Gurkan
;
Damla Eker
;
Yasemin Karal
;
Sinem Yalcintepe
, et al.
소스
Global Medical Genetics, Vol 09, Iss 03, Pp 226-236 (2022)
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7 . Academic Journal
Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
저자
by
Damla Eker
;
Hakan Gurkan
;
Yasemin Karal
;
Sinem Yalcintepe
;
Selma Demir
, et al.
소스
Global Medical Genetics, Vol 09, Iss 03, Pp 200-207 (2022)
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7 . Academic Journal
Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
저자
by
Emine Ikbal Atli
;
Engin Atli
;
Cihan Inan
;
Gülizar Fusun Varol
;
Cisem Mail
, et al.
소스
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 3, Pp 504-509 (2022)
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7 . Academic Journal
Clinical Features of Aberrations Chromosome 22q: A Pilot Study
저자
by
Emine Ikbal Atli
;
Engin Atli
;
Sinem Yalcintepe
;
Selma Demir
;
Cisem Mail
, et al.
소스
Global Medical Genetics, Vol 09, Iss 01, Pp 042-050 (2022)
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7 . Academic Journal
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
저자
by
Emine Ikbal Atli
;
Engin Atli
;
Sinem Yalcintepe
;
Selma Demir
;
Rasime Kalkan
, et al.
소스
Global Medical Genetics, Vol 09, Iss 01, Pp 029-033 (2022)
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7 . Academic Journal
Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly
저자
by
Sinem Yalcintepe
;
Hazal Sezginer Guler
;
Drenushe Zhuri
;
Damla Eker
;
Hakan Gurkan
.
소스
Journal of Head & Neck Physicians and Surgeons, Vol 10, Iss 1, Pp 112-115 (2022)
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7 . Academic Journal
Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
저자
by
Selma Demir
;
Sinem Yalçıntepe
;
Engin Atlı
;
Yelda Yalçın
;
Emine İkbal Atlı
, et al.
소스
Balkan Medical Journal, Vol 38, Iss 6, Pp 341-347 (2021)
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7 . Academic Journal
The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
저자
by
Sinem Yalçıntepe
;
Fatma Özgüç Çömlek
;
Hakan Gürkan
;
Selma Demir
;
Emine İkbal Atlı
, et al.
소스
JCRPE, Vol 13, Iss 3, Pp 320-331 (2021)
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