Hasil Pencarian - Engin Atli

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  1. 1
    Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time

    Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time oleh Sinem Yalçıntepe, Hakan Gürkan, Engin Atlı, Niyazi Cenk Sayın, Ümit Nusret Başaran

    Diterbitkan 2020-09-01
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  2. 2
    Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

    Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome oleh Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan

    Diterbitkan 2020-08-01
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  3. 3
    Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

    Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method oleh Damla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir, Engin Atli, Serap T. Karasalihoglu

    Diterbitkan 2022-09-01
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  4. 4
    Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

    Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique oleh Engin Atlı, Hakan Gürkan, Babürhan Güldiken, Damla Eker, Sinem Yalçıntepe, Selma Demir, Emine İkbal Atlı

    Diterbitkan 2023-01-01
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  5. 5
    Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss

    Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss oleh Drenushe Zhuri, Hazal Sezginer Guler, Sinem Yalcintepe, Selma Demir, Engin Atli, Emine Ikbal Atli, Hakan Gurkan

    Diterbitkan 2024-07-01
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  6. 6
    Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

    Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants oleh Selma Demir, Sinem Yalçıntepe, Engin Atlı, Yelda Yalçın, Emine İkbal Atlı, Damla Eker, Yasemin Karal, Hakan Gürkan

    Diterbitkan 2021-11-01
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  7. 7
    Clinical Features of Aberrations Chromosome 22q: A Pilot Study

    Clinical Features of Aberrations Chromosome 22q: A Pilot Study oleh Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Cisem Mail, Damla Eker, Yasemin Ozen, Hakan Gurkan

    Diterbitkan 2022-03-01
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  8. 8
    Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

    Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period oleh Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan

    Diterbitkan 2022-03-01
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  9. 9
    Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

    Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype oleh Drenushe Zhuri, Hakan Gurkan, Damla Eker, Yasemin Karal, Sinem Yalcintepe, Engin Atli, Selma Demir, Emine Ikbal Atli

    Diterbitkan 2022-09-01
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  10. 10
    The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

    The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region oleh Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli

    Diterbitkan 2021-09-01
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  11. 11
    Prenatal diagnosis of 20p13 microdeletion syndrome

    Prenatal diagnosis of 20p13 microdeletion syndrome oleh Cem Yener, Cenk Sayın, Cihan İnan, Hakan Gürkan, Emine İkbal Atlı, Engin Atlı, Esra Altan, Sinan Ateş, Füsun Varol

    Diterbitkan 2021-03-01
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  12. 12
    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

    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 oleh Emine Ikbal Atli, Engin Atli, Cihan Inan, Gülizar Fusun Varol, Cisem Mail, Esra Altan Erbilen, Sinem Yalcintepe, Selma Demir, Hakan Gurkan

    Diterbitkan 2022-05-01
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  13. 13
    The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

    The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method oleh Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan

    Diterbitkan 2023-06-01
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  14. 14
    THE IMPORTANCE OF TARGETED NEXT-GENERATION SEQUENCING USAGE IN CYTOGENETICALLY NORMAL MYELOID MALIGNANCIES

    THE IMPORTANCE OF TARGETED NEXT-GENERATION SEQUENCING USAGE IN CYTOGENETICALLY NORMAL MYELOID MALIGNANCIES oleh Emine Atli, Rasime Kalkan, Cisem Mail, Damla Eker, Ufuk Demirci, Selma Demir, Sinem Yalcintepe, Hakki Onur Kirkizlar, Engin Atli, Hakan Gurkan, Ahmet Muzaffer Demir

    Diterbitkan 2021-01-01
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  15. 15
    Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

    Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma oleh Sinem Yalcintepe, Hakan Gurkan, Fatma Nur Korkmaz, Selma Demir, Engin Atli, Damla Eker, Hazal Sezginer Guler, Drenushe Zhuri, Emine Ikbal Atli, Semra Ayturk Salt, Mustafa Sahin, Sibel Guldiken

    Diterbitkan 2021-03-01
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