المؤلفون: Kaynar K, Kayıpmaz S, Çebi AH, Hüseynova Ş

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 83-87 (2022)

مصطلحات موضوعية: ciliopathies, cranioectodermal dysplasia (ced), cystic, kidney diseases, syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/3304df00504549c6a6c4737b38e23a27

المؤلفون: Kaynar, K, Kayıpmaz, S, Çebi, AH, Hüseynova, Ş

المصدر: Balkan Journal of Medical Genetics; 2021, Vol. 24 Issue 2, p83-87, 5p

مصطلحات موضوعية: POLYCYSTIC kidney disease, CYSTIC kidney disease, DYSPLASIA, YOUNG adults, ANGIOTENSIN-receptor blockers, JOINT hypermobility

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المؤلفون: Türkyılmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, Arman A

المصدر: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 15-24 (2022)

مصطلحات موضوعية: array-based comparative genomic hybridization (acgh), copy number variations (cnv), developmental delay, dysmorphic facial features, genotype-phenotype correlation, intellectual disability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/b4c8addd46594dddad739bcf0d55ca5e

المؤلفون: Türkyılmaz A; Departments of Medical Genetics., Cimbek EA; Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon., Kardeş H; Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon., Çebi AH; Departments of Medical Genetics., Acar Arslan E; Department of Pediatric Neurology, Marmara University, Faculty of Medicine, İstanbul, Türkiye., Karagüzel G; Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Jul 01; Vol. 33 (3), pp. 118-120. Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Deafness*/genetics , Deafness*/diagnosis , Hypotrichosis*/genetics , Hypotrichosis*/diagnosis, Humans ; Diabetes Mellitus/genetics ; Diabetes Mellitus/diagnosis ; Mutation ; SOXE Transcription Factors/genetics ; Turkey

المؤلفون: Fidan S; Department of Gastroenterology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Seferli S; Department of Internal Medicine, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Durak S; Department of Gastroenterology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Konca Seferoğlu C; Department of Gastroenterology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Okatan İE; Department of Rheumatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Çebi AH; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Erkut M; Department of Gastroenterology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye., Coşar AM; Department of Gastroenterology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.

المصدر: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology [Turk J Gastroenterol] 2024 May 20; Vol. 35 (8), pp. 618-624.

نوع المنشور: Journal Article; Comparative Study

بيانات الدورية: Publisher: Aves Country of Publication: Turkey NLM ID: 9515841 Publication Model: Print Cited Medium: Internet ISSN: 2148-5607 (Electronic) Linking ISSN: 13004948 NLM ISO Abbreviation: Turk J Gastroenterol Subsets: MEDLINE

مواضيع طبية MeSH: Familial Mediterranean Fever*/genetics , Mutation* , Pyrin*/genetics , Age of Onset*, Humans ; Adult ; Male ; Female ; Middle Aged ; Young Adult ; Adolescent ; Aged ; Turkey/epidemiology ; Abdominal Pain/etiology ; Amyloidosis/genetics ; Homozygote ; Heterozygote

المؤلفون: Yılmaz M; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Kamaşak T; Department of Pediatric Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Teralı K; Department of Medical Biochemistry, Faculty of Medicine, Cyprus International University, Nicosia, Cyprus., Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63535. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/diagnosis, Humans ; AlkB Homolog 8, tRNA Methyltransferase/genetics ; Developmental Disabilities/genetics ; Mutation, Missense/genetics ; Phenotype ; RNA, Transfer/genetics

المؤلفون: Teralı K; Department of Medical Biochemistry, Faculty of Medicine, Cyprus International University, Nicosia, Cyprus., Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Sağer SG; Department of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul, Turkey., Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

المصدر: Clinical and translational science [Clin Transl Sci] 2024 Jan; Vol. 17 (1), pp. e13679. Date of Electronic Publication: 2023 Dec 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Myoclonic*/genetics , Epileptic Syndromes*/genetics , Epilepsy*/genetics, Humans ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Phenotype ; Mutation, Missense ; Mutation

المؤلفون: Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Cimbek EA; Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Acar Arslan E; Department of Pediatric Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Karagüzel G; Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

المصدر: Molecular syndromology [Mol Syndromol] 2023 Feb; Vol. 14 (1), pp. 35-43. Date of Electronic Publication: 2022 Jul 06.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

المؤلفون: Bolat H; Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Turkey., Sağer SG; Clinics of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey., Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University Trabzon, Trabzon, Turkey., Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University Trabzon, Trabzon, Turkey., Akın Y; Clinics of Pediatrics, Kartal Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey., Onay H; Multigen Genetics Center, Izmir, Turkey., Özkınay F; Department of Pediatrics, Division of Pediatric Genetics, Ege University Faculty of Medicine, Izmir, Turkey., Ünsel-Bolat G; Department of Child and Adolescent Psychiatry, Balıkesir University Faculty of Medicine, Balıkesir, Turkey.; Department of Neuroscience, Ege University, Izmir, Turkey.

المصدر: Molecular syndromology [Mol Syndromol] 2022 Dec; Vol. 13 (5), pp. 363-369. Date of Electronic Publication: 2022 Apr 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE