Found: 26
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Preoperative Screening for COVID-19: Results from a Clinical Diagnostic Laboratory.
- Published in:
- Experimed, 2022, v. 12, n. 3, p. 130, doi. 10.26650/experimed.1183762
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- Publication type:
- 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.
- Published in:
- Medeniyet Medical Journal, 2022, v. 37, n. 2, p. 180, doi. 10.4274/MMJ.galenos.2022.70962
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- Article
How to Manage Low Estriol Levels in Pregnancies, One Center Experience.
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- Medeniyet Medical Journal, 2022, v. 37, n. 1, p. 62, doi. 10.4274/MMJ.galenos.2022.22747
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- Publication type:
- Article
Change in Lipid Metabolism Gene Expressions during TGF-β-Induced Epithelial-Mesenchymal Transition Process.
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- Gazi Medical Journal, 2024, v. 35, p. 35
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- Publication type:
- Article
Effectiveness of MediSom in Identifying Critical Fusions in Tumor Genome Profiling.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 27
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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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- Article
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 1, p. 53, doi. 10.1515/jpem-2022-0155
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- Publication type:
- Article
Clinical, Genetic, and Outcome Characteristics of Pediatric Patients with Primary Hemophagocytic Lymphohistiocytosis.
- Published in:
- Turkish Archives of Pediatrics, 2022, v. 57, n. 4, p. 398, doi. 10.5152/TurkArchPediatr.2022.21314
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- Publication type:
- Article
FREQUENCY OF BRCA1/2 AND OTHER GENE VARIATIONS IN PATIENTS WITH BREAST CANCER IN OUR CENTER.
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2019, v. 44, p. 61
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- Publication type:
- Article
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 5, p. 601, doi. 10.24953/turkjped.2017.05.017
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- Publication type:
- Article
Familial mutation in Caffey disease with reduced penetrance: A case report.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 6, p. 650, doi. 10.24953/turkjped.2016.06.011
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- Publication type:
- Article
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development.
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- Balkan Medical Journal, 2018, v. 35, n. 3, p. 272, doi. 10.4274/balkanmedj.2017.0378
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- Publication type:
- Article
COVID-19 Pozitif Hastalarda SARS-CoV-2 Varyantlarının Prevalansı.
- Published in:
- Klimik Journal / Klimik Dergisi, 2022, v. 35, n. 4, p. 220, doi. 10.36519/kd.2022.4264
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- Publication type:
- Article
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region.
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- Journal of International Advanced Otology, 2015, v. 11, n. 2, p. 118, doi. 10.5152/iao.2015.1212
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- Publication type:
- Article
Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 3, p. 201, doi. 10.1111/cge.14177
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- Publication type:
- Article
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
Contribution of MLPA to routine testing to detect the prognostic chromosomal abnormalities in chronic lymphocytic leukemia.
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- Gene Therapy & Molecular Biology, 2014, v. 16, p. 1
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- Publication type:
- Article
Mutation profile of the patients diagnosed with myeloid neoplasia tested with next generation sequencing and clinical implications.
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- Annals of Medical of Research, 2022, v. 29, n. 4, p. 406, doi. 10.5455/annalsmedres.2021.06.480
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- Publication type:
- Article
DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing.
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- PeerJ, 2023, p. 1, doi. 10.7717/peerj.16026
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- Publication type:
- Article
Chronic Neutropenia in Childhood: Laboratory and Clinical Features.
- Published in:
- Indian Journal of Pediatrics, 2022, v. 89, n. 9, p. 894, doi. 10.1007/s12098-022-04104-4
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- Publication type:
- Article
Evaluation of Laboratory Findings, Clinical Features ID and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2020, v. 10, n. 2, p. 127, doi. 10.5222/buchd.2020.43155
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- Article
Refractory Burkitt Lymphoma Following Acute Lymphoblastic Leukemia in a Patient with Homozygous PMS2 Deficiency.
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- Turkish Journal of Hematology, 2024, v. 41, n. 2, p. 126, doi. 10.4274/tjh.galenos.2024.2023.0476
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- Publication type:
- Article
GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLECENTER EXPERIENCE.
- Published in:
- Journal of Advanced Research in Health Sciences (JARHS) / Sağlık Bilimlerinde İleri Araştırmalar Dergisi (SABİAD), 2022, v. 5, n. 3, p. 140, doi. 10.26650/JARHS2022-1119899
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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.
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- 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
HLA ‐ matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3–phosphatase mutation developed acute myeloid leukemia.
- Published in:
- Pediatric Transplantation, 2022, v. 26, n. 4, p. 1, doi. 10.1111/petr.14255
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- Publication type:
- Article