نتائج البحث

Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample.

• Authors : Ayhan, Aynur Bütün¹; Beyazıt, Utku²; Topuz, Şenay³

• Source: Journal of Autism & Developmental Disorders. Sep2021, Vol. 51 Issue 9, p3331-3340. 10p. 5 Charts.

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Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample

• Authors : Ayhan, Aynur Bütün; Beyazit, Utku; Topuz, Senay

Subjects: Foreign Countries; Autism; Pervasive Developmental DisordersTurkey

• Source: Journal of Autism and Developmental Disorders. Sep 2021 51(9):3331-3340.10

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Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

• Authors : Patel KA; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK. .; Ozbek MN

Subjects: Genetic Predisposition to Disease* ; Genetic Testing*; Diabetes Mellitus, Type 1/Diabetes Mellitus, Type 1/Diabetes Mellitus, Type 1/*genetics

• Source: Diabetologia [Diabetologia] 2022 Feb; Vol. 65 (2), pp. 336-342. Date of Electronic Publication: 2021 Oct 23.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Advantages and limitations of QF-PCR analysis in invasive prenatal genetic diagnosis: a tertiary center experience from Turkey.

• Authors : Akalın, Münip¹ ; Demirci, Oya²; Dizdaroğulları, Gizem Elif²

• Source: Perinatal Journal. Dec2022, Vol. 30 Issue 3, p257-265. 9p.

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Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus.

• Authors : Şimşek, Enver; Çilingir, Oğuz; Şimşek, Tülay

Subjects: TYPE 1 diabetes; CROSS-sectional method; AUTOANTIBODIESTURKEY

• Source: Journal of Clinical Research in Pediatric Endocrinology; Jun2024, Vol. 16 Issue 2, p137-145, 9p

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Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

• Authors : Özsu, Elif; Çetinkaya, Semra; Bolu, Semih

Subjects: METFORMIN; MATURITY onset diabetes of the young; TURKSTURKEY

• Source: Journal of Clinical Research in Pediatric Endocrinology; Sep2024, Vol. 16 Issue 3, p297-305, 9p

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Mucopolysaccharidosis-Plus Syndrome.

• Authors : Vasilev, Filipp^1,2,3 ; Aitalina Sukhomyasova³ ; Takanobu Otomo¹

Subjects: *CONGENITAL heart disease; *GENETIC testingTURKEY

• Source: International Journal of Molecular Sciences. 1/15/2020, Vol. 21 Issue 2, p1-14. 14p. 3 Diagrams, 2 Charts, 1 Graph, 1 Map.

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The Molecular Landscape of ALS in Türkiye.

• Authors : Bayraktar, Elif¹; Çiftçi, Vildan¹; Tunca, Ceren¹

• Source: Gazi Medical Journal. 2024 Supplement, Vol. 35, p10-10. 1/3p.

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Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.

• Authors : Yaz I; Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey.; Ozbek B

Subjects: Genetic Testing* ; High-Throughput Nucleotide Sequencing* ; Leukocyte-Adhesion Deficiency Syndrome*/Leukocyte-Adhesion Deficiency Syndrome*/Leukocyte-Adhesion Deficiency Syndrome*/diagnosis Leukocyte adhesion deficiency type 1

• Source: Clinical and experimental immunology [Clin Exp Immunol] 2021 Oct; Vol. 206 (1), pp. 47-55. Date of Electronic Publication: 2021 Aug 05.Publisher: Oxford University Press Country of Publication: England NLM ID: 0057202 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Demographic distributions and clinical results of assisted reproduction techniques in Turkey in 2019: a descriptive survey.

• Authors : Benlioğlu, Can; Aydın, Yunus; Bahçeci, Mustafa

Subjects: INFERTILITY treatment; REPRODUCTIVE health; SEMENTURKEY

• Source: Journal of the Turkish-German Gynecological Association; Mar2024, Vol. 25 Issue 1, p18-23, 6p

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