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Wyszukujesz frazę ""Yuksel, Adnan"" wg kryterium: Autor


Wyświetlanie 1-4 z 4
Tytuł :
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
Autorzy :
Lee B; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, South Korea.
Duz MB; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Sagong B; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, South Korea.
Koparir A; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Lee KY; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, Kyungpook National University, Daegu, South Korea.
Choi JY; Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, South Korea.
Seven M; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey.
Yuksel A; Department of Medical Genetics, Biruni University Medical School, Istanbul, Turkey.
Kim UK; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, South Korea. Electronic address: .
Ozen M; Department of Medical Genetics, Istanbul University Cerrahpasa Medical School, Istanbul, Turkey; Department of Medical Genetics, Biruni University Medical School, Istanbul, Turkey; Department of Pathology & Immunology, Baylor College of Medicine, Michael E. DeBakey VAMC, Houston, TX, United States. Electronic address: .
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Źródło :
Gene [Gene] 2016 Feb 01; Vol. 576 (2 Pt 2), pp. 776-81. Date of Electronic Publication: 2015 Nov 10.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
CHARGE Syndrome/*genetics
DNA Helicases/*genetics
DNA-Binding Proteins/*genetics
Mutation/*genetics
RNA Splice Sites/*genetics
Adult ; Amino Acid Sequence ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Exons/genetics ; Female ; HeLa Cells ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Transfection
Czasopismo naukowe
Tytuł :
Whole-exome sequencing revealed two novel mutations in Usher syndrome.
Autorzy :
Koparir A; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Karatas OF; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey; Molecular Biology and Genetics Department, Erzurum Technical University, Erzurum, Turkey.
Atayoglu AT; American Hospital, Family Medicine Department, Istanbul, Turkey.
Yuksel B; Genetic Engineering and Biotechnology Institute, TUBITAK Marmara Research Center, Kocaeli, Turkey.
Sagiroglu MS; Advanced Genomics and Bioinformatics Research Center (İGBAM), BİLGEM, TUBITAK, Kocaeli, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Yuksel A; Biruni University, Istanbul, Turkey.
Ozen M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey; Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX 77030, USA; Biruni University, Istanbul, Turkey. Electronic address: .
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Źródło :
Gene [Gene] 2015 Jun 01; Vol. 563 (2), pp. 215-8. Date of Electronic Publication: 2015 Mar 30.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Usher Syndromes/*genetics
Child ; Genome-Wide Association Study/methods ; Hearing Loss/genetics ; Heterozygote ; Humans ; Male ; Retinitis Pigmentosa/genetics
Czasopismo naukowe
Tytuł :
A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.
Autorzy :
Seven M; Istanbul University, Cerrahpasa Medical School, Department of Medical Genetics, Fatih, Istanbul, Turkey.
Gezdirici A
Ulucan H
Karatas OF
Yosunkaya E
Yuksel A
Ozen M
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Źródło :
Gene [Gene] 2013 Sep 25; Vol. 527 (2), pp. 675-8. Date of Electronic Publication: 2013 Jul 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Craniofacial Abnormalities/*genetics
Ephrin-B1/*genetics
Foot Deformities/*genetics
Female ; Humans ; Infant
SCR Disease Name :
Craniofrontonasal dysplasia
Czasopismo naukowe
Tytuł :
Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.
Autorzy :
Karaca E; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA.
Karakoc-Aydiner E
Bayrak OF
Keles S
Sevli S
Barlan IB
Yuksel A
Chatila TA
Ozen M
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Źródło :
Gene [Gene] 2013 Jan 10; Vol. 512 (2), pp. 189-93. Date of Electronic Publication: 2012 Nov 02.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Prenatal Diagnosis*
Severe Combined Immunodeficiency*/blood
Severe Combined Immunodeficiency*/diagnosis
Severe Combined Immunodeficiency*/genetics
Severe Combined Immunodeficiency*/pathology
ZAP-70 Protein-Tyrosine Kinase/*genetics
Adult ; Amino Acid Substitution ; CD8-Positive T-Lymphocytes/metabolism ; CD8-Positive T-Lymphocytes/pathology ; Child, Preschool ; Dermatitis/blood ; Dermatitis/diagnosis ; Dermatitis/genetics ; Dermatitis/pathology ; Family ; Female ; Humans ; Ichthyosis/blood ; Ichthyosis/diagnosis ; Ichthyosis/genetics ; Ichthyosis/pathology ; Immunoglobulin E/blood ; Killer Cells, Natural/metabolism ; Killer Cells, Natural/pathology ; Lymphocyte Count ; Male ; Pedigree ; Pregnancy ; T-Lymphocytes, Regulatory/metabolism ; T-Lymphocytes, Regulatory/pathology ; Turkey ; ZAP-70 Protein-Tyrosine Kinase/blood ; ZAP-70 Protein-Tyrosine Kinase/deficiency
SCR Disease Name :
ZAP70 deficiency
Czasopismo naukowe
    Wyświetlanie 1-4 z 4

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