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Inherited Variants is a Genetic Determinant of Mercaptopurine/Methotrexate Intolerance in Children With Acute Lymphoblastic Leukemia.
- Published in:
- Eurasian Journal of Medical Investigation, 2022, v. 6, n. 4, p. 436, doi. 10.14744/ejmi.2022.48878
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- Article
Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience.
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- European Research Journal, 2023, v. 9, n. 4, p. 725, doi. 10.18621/eurj.1130666
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- Article
EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES.
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- Journal of Basic & Clinical Health Sciences, 2022, v. 6, n. 3, p. 921, doi. 10.30621/jbachs.1069678
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- Article
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.
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- Medeniyet Medical Journal, 2022, v. 37, n. 2, p. 180, doi. 10.4274/MMJ.galenos.2022.70962
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- Article
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 284, doi. 10.1159/000536386
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- Article
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).
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- Molecular Syndromology, 2022, v. 13, n. 3, p. 235, doi. 10.1159/000519149
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- Article
Clinical Implications of Chromosome 16 Copy Number Variation.
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- Molecular Syndromology, 2022, v. 13, n. 3, p. 184, doi. 10.1159/000517762
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- Publication type:
- Article
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 2, p. 88, doi. 10.1159/000520722
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- Publication type:
- Article
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.
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- Molecular Syndromology, 2021, v. 12, n. 1, p. 46, doi. 10.1159/000511971
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- Article
Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22).
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- 2020
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- Publication type:
- Abstract
A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 6, p. 320, doi. 10.1159/000505004
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- Publication type:
- Article
The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 320, doi. 10.4274/jcrpe.galenos.2021.2020.0285
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- Article
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia.
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- Journal of Medical Virology, 2023, v. 95, n. 2, p. 1, doi. 10.1002/jmv.28457
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- Article
The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.
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- Mediterranean Journal of Hematology & Infectious Diseases, 2021, v. 13, n. 1, p. 1, doi. 10.4084/MJHID.2021.013
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- Article
Prenatal Sitogenetik Anormallikler ve Ultrasonografik olarak Saptanan Fetal Anomalilerin Korelasyonu.
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- Osmangazi Journal of Medicine / Osmangazi Tip Dergisi, 2022, v. 44, n. 5, p. 682, doi. 10.20515/otd.1055810
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- Article
Sendromik Olmayan Konjenital Yarık Damak-Dudak Bulunan Hastalarda Kopya Sayısı Varyasyonlarının Belirlenmesi.
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- Osmangazi Journal of Medicine / Osmangazi Tip Dergisi, 2021, v. 43, n. 5, p. 462, doi. 10.20515/otd.910654
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- Publication type:
- Article
RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021, v. 84, n. 3, p. 348, doi. 10.26650/IUITFD.2021.880592
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- Article
TRAKYA BÖLGESİ ERKEK İNFERTİLİTE OLGULARINDA Y KROMOZOM MİKRODELESYONLARI VE SİTOGENETİK ANOMALİLERİN SIKLIĞI: TEK MERKEZ DENEYİMİ.
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- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2021, v. 84, n. 1, p. 27, doi. 10.26650/IUITFD.2020.0017
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- Publication type:
- Article
The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 191, doi. 10.4274/BMJ.galenos.2023.2023.1-10
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- Publication type:
- Article
The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 191, doi. 10.4274/BMJ.galenos.2023.2023.1-10
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- Publication type:
- Article
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
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- Internal Medicine Journal, 2022, v. 52, n. 7, p. 1174, doi. 10.1111/imj.15219
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- Publication type:
- Article
17q21.31 deletion including partially EFTUD2 gene detected by arrayCGH in a patient with Mandibulofacial dysostosis type Guion-Almeida.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 4a, p. P7
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- Publication type:
- Article
A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2016, v. 38, n. 1, p. 46, doi. 10.5152/etd.2016.0003
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- Publication type:
- Article
Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2021, v. 58, n. 3, p. 171, doi. 10.29399/npa.27407
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- Publication type:
- Article
Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2020, v. 57, n. 3, p. 177, doi. 10.29399/npa.24890
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- Publication type:
- Article
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique.
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- Balkan Medical Journal, 2023, v. 40, n. 1, p. 13, doi. 10.4274/balkanmedj.galenos.2022.2022-7-55
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- Publication type:
- Article
Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
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- Balkan Medical Journal, 2021, v. 38, n. 6, p. 341, doi. 10.5152/balkanmedj.2021.21092
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- Article
Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time.
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- Balkan Medical Journal, 2020, v. 37, n. 5, p. 297, doi. 10.4274/balkanmedj.galenos.2020.2019.11.128
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- Article
Functional analysis of MMR gene VUS from potential Lynch syndrome patients.
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- PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0304141
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- Article
Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants.
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- Neurology Asia, 2023, v. 28, n. 4, p. 1041, doi. 10.54029/2023rfz
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- Article
Clinical Features of Aberrations Chromosome 22q: A Pilot Study.
- Published in:
- Global Medical Genetics, 2022, v. 9, n. 1, p. 42, doi. 10.1055/s-0041-1739496
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- Article
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period.
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- Global Medical Genetics, 2022, v. 9, n. 1, p. 29, doi. 10.1055/s-0041-1736566
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- Publication type:
- Article
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
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- Journal of International Advanced Otology, 2024, v. 20, n. 4, p. 312, doi. 10.5152/iao.2024.22919
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- Article
Investigation the etiology of syndromic autism with targeted gene analysis.
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- Annals of Medical of Research, 2021, v. 28, n. 12, p. 2174, doi. 10.5455/annalsmedres.2021.03.240
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- Article
A Child with 5q Deletion and Accompanying Chiari 1 Malformation.
- Published in:
- 2020
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- Publication type:
- Letter
Liquid biopsy as a new era in endometrial cancer.
- Published in:
- Oncologie (De Gruyter), 2024, v. 26, n. 3, p. 483, doi. 10.1515/oncologie-2024-0036
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- Publication type:
- Article
Importance of Diagnosis in Breast Cancer with Non-BRCA Pathogenic Germline Variants of Cancer Susceptibility Genes using High-Throughput Sequencing Analysis.
- Published in:
- Eurasian Journal of Medicine & Oncology, 2022, v. 6, n. 1, p. 30, doi. 10.14744/ejmo.2022.88057
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- Publication type:
- Article