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DOÇ.DR. ALTUĞ KOÇ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ TIBBİ GENETİK ANABİLİM DALI

  • Eğitim / Akademik Bilgisi
    Lisans  Marmara Üniversitesi Tıp Fakültesi  2003
    Tıpta Uzmanlık  Gazi Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı  2008
    Yardımcı Doçent  Dokuz Eylül Üniversitesi Tıp Fakültesi  2018
    Doçent  Üniversitelerarası Kurul Başkanlığı Tıbbi Genetik  2020
  • NO AD YIL
    1  Spinal Muscular Atrophy Results and Comparison of Commonly Used Methods....  2019
    2  First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss....  2019
    3  Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome...  2019
    4  Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes...  2019
    5  A toddler with a novel LEPR mutation...  2019
    6  The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15...  2019
    7  cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies...  2019
    8  Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study....  2019
    9  New Insight of Tumor Microenvironment in Non-Small Cell Lung Cancer...  2019
    10  Targeted Next Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carci...  2019
    11  Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)...  2018
    12  Fetal HLA-G Alleles and Their Effect on Miscarriage...  2018
    13  An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy....  2018
    14  Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum...  2018
    15  Experiences in Microarray-based Evaluation of Developmental Disabilities and Congenital Anomalies....  2017
    16  QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey....  2017
    17  Determination of HER2 and p53 Mutations by Sequence Analysis Method and EGFR/Chromosome 7 Gene Statu...  2015
    18  Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly...  2014
    19  Asn680ser polymorphism of the follicle-stimulating hormone receptor gene (FSHR) is not associated wi...  2014
    20  Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syn...  2014
    21  Chromosomal and structural anomalies in fetuses with open neural tube defects....  2014
    22  Prenatal diagnosis of an autosomal translocation with regular trisomy 21....  2013
    23  A case of dup(3q) syndrome. Genetic Counseling...  2013
    24  New Phenotype with Generalized Platyspondyly, Large Mandible, Hypoplastic Teeth, Strabismus, Hyperop...  2011
    25  The progeny of homozygous identical reciprocal translocation carrier mother....  2010
    26  The importance of systematic genetic approach to familial schizophrenia cases and discussion of cryp...  2010
    27  The apolipoprotein E gene and Taq1A polymorphisms in childhood obesity....  2010
    28  Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnorm...  2009
    29  Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity....  2009
    30  A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anem...  2009
    31  CTLA4 gene polymorphisms in children and adolescents with autoimmune thyroid diseases....  2008
    32  An unexpected finding in a child with neurological problems: mosaic ring chromosome 18...  2008
    33  A case with bilateral radio-ulnar synostosis...  2008
    34  A case with a ring chromosome 22...  2008
    35  A boy with small supernumerary marker chromosome X identified by FISH....  2007
    36  A new case of hairy elbows syndrome (hypertrichosis cubiti)...  2007
  • NO AD TARİH
    1  Kolon kanserinde alt tip transkriptom veri analizi... 16/01/2020 - 18/01/2020
    2  Distrofinonopatili Ailelerde Genotip ve Fenotip İlişkisinin Ayrıntılandırılması.... 01/11/2019 - 03/11/2019
    3  Küçük hücreli dışı akciğer kanseri (KHDAK) olgularına ait epidermal büyüme faktörü rese... 05/10/2019 - 06/10/2019
    4  Alport Sendromlu Olgularımızın Genetik Sonuçları... 25/09/2019 - 27/09/2019
    5  PKD1 geninde yeni mutasyon saptanan polikistik böbrek hastalığı ailesi.... 25/09/2019 - 27/09/2019
    6  Prenatal Izlemde Genetiğin Tani Koyduğu En Net Örneklerden Biri Tuberoskleroz... 25/09/2019 - 27/09/2019
    7  Nörofibromatosis Olgularının Klinik Genetik Özellikleri ve 2 Yeni Varyantın Tanımlanması... 25/09/2019 - 27/09/2019
    8  Retinitis Pigmentosali Olgularımızın Genetik Spektrumu... 25/09/2019 - 27/09/2019
    9  RETİNİTİS PİGMENTOSALI OLGULARIMIZIN GENETİK SPEKTRUMU... 25/09/2019 - 27/09/2019
    10  Investigation of Epidermal Growth Factor Receptor (EGFR) Pathway Related, Exosomal miRNAs in Non-sma... 22/09/2019 - 24/09/2019
    11  CLINICAL ANALYSIS OF GERMLINE CELL AND SOMATIC VARIANTS... 22/09/2019 - 24/09/2019
    12  DIFFERENT PRESENTATIONS OF LONG QT SYNDROME... 17/04/2019 - 20/04/2019
    13  A de novo 6q21q22.33 deletion in a boy with microcephaly, developmental delay and dysmorphic feature... 17/04/2019 - 20/04/2019
    14  Novel LEPR and MC4R gene mutations in two early onset obesity patients.... 17/04/2019 - 20/04/2019
    15  Two Novel Variants of AGL and GBE1 Genes in Glycogen Storage Disease Patients... 17/04/2019 - 20/04/2019
    16  Microarray Based Prenatal Diagnosis.... 17/04/2019 - 20/04/2019
    17  Tükürük Bezi Malignitelerinin Davranışında EGFR Gen Mutasyonunun Etkisi: Moleküler Gen Analiz... 04/04/2019 - 07/04/2019
    18  A case with mutation in the TNFRSF1A gene.... 21/02/2019 - 23/02/2019
    19  Investigation of cfDNA in volatile condensate.... 21/02/2019 - 23/02/2019
    20  A novel pathogenic frameshift variant of ETFDH in a patient with myopathy.... 29/11/2018 - 02/12/2018
    21  Liquid biopsy for EGFR mutations in non-small cell lung cancer cases by RTPCR... 15/09/2018 - 19/09/2018
    22  Liquid Biopsy in Lung Cancer: Tepecik Experience... 11/04/2018 - 18/04/2018
  • NO AD TARIH
    1  TÜSEB Ağ-tabanlı bir sistem biyolojisi yaklaşımı ile kolorektal kanseri gelişiminde ve karaciğer metastazında etkili olan yolakların ve biyo-belirteçlerin tespiti...  4/2020 - /
    2  Koroner Yoğun Bakım'a yatan hastalarda ilaçla-indüklenen QT uzaması prevalansı ve risk faktörleri...  1/2020 - /
    3  Volatil Kondensatta cfDNA Varlığının Araştırılması...  7/2017 - 7/2018
  • NO AD YIL
    1  TAILOR OF SCIENCE REWARDS...  2019