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Single Mutation Different Clinical Findings: IGLL1 Defect.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09513-6
- By:
- Publication type:
- Article
Evaluation of Similar Genetic Pathophysiology Underlying Diabetes Mellitus and Peyronie's Disease: WNT-2 and TGF Beta-1 Genes.
- Published in:
- Medical Bulletin of Haseki / Haseki Tip Bulteni, 2024, v. 62, n. 2, p. 92, doi. 10.4274/haseki.galenos.2024.9534
- By:
- Publication type:
- Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
- By:
- Publication type:
- Article
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09513-6
- By:
- Publication type:
- Article
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 1, doi. 10.1159/000533915
- By:
- Publication type:
- Article
Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant.
- Published in:
- Turkish Archives of Otolaryngology / Türk Otolarengoloji Arsivi, 2023, v. 61, n. 4, p. 192, doi. 10.4274/tao.2023.2023-4-5
- By:
- Publication type:
- Article
Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant.
- Published in:
- Turkish Archives of Otorhinolaryngology, 2023, v. 61, n. 4, p. 193, doi. 10.4274/tao.2023.2023-4-5
- By:
- Publication type:
- Article
Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant.
- Published in:
- Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2023, v. 53, n. 6, p. 386, doi. 10.4274/tjo.galenos.2023.72609
- By:
- Publication type:
- Article
A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 11, p. 3333, doi. 10.1002/ppul.26607
- By:
- Publication type:
- Article
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
- Published in:
- Acta Neurologica Belgica, 2023, v. 123, n. 5, p. 1841, doi. 10.1007/s13760-022-02090-0
- By:
- Publication type:
- Article
A Rare Cause of Congenital Neutropenia: SRP54 Variant.
- Published in:
- Asthma Allergy Immunology / Astim Allerji Immunoloji, 2023, v. 21, n. 2, p. 156, doi. 10.21911/aai.122
- By:
- Publication type:
- Article
Fetal left ventricular myocardial performance index measured at 11–14 weeks of gestation in fetuses with an increased nuchal translucency.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 4, p. 1121, doi. 10.1111/jog.15551
- By:
- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
- By:
- Publication type:
- Article
The Importance of Screening Tests and Amniocentesis in Approach to Pregnant Women Over the Age of Thirty-Five.
- Published in:
- Journal of Academic Research in Medicine, 2022, v. 12, n. 3, p. 155, doi. 10.4274/jarem.galenos.2022.16878
- By:
- Publication type:
- Article
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3229, doi. 10.1002/ajmg.a.62959
- By:
- Publication type:
- Article
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 471, doi. 10.1159/000523937
- By:
- 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
- By:
- Publication type:
- Article
EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES.
- Published in:
- Journal of Basic & Clinical Health Sciences, 2022, v. 6, n. 3, p. 921, doi. 10.30621/jbachs.1069678
- By:
- Publication type:
- Article
Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel.
- Published in:
- Molecular Biology Reports, 2022, v. 49, n. 8, p. 7483, doi. 10.1007/s11033-022-07552-5
- By:
- Publication type:
- Article
The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome.
- Published in:
- Medeniyet Medical Journal, 2022, v. 37, n. 3, p. 226, doi. 10.4274/MMJ.galenos.2022.09086
- By:
- Publication type:
- Article
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.861236
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 1, p. 149, doi. 10.1007/s12031-021-01897-5
- By:
- Publication type:
- Article
How to Manage Low Estriol Levels in Pregnancies, One Center Experience.
- Published in:
- Medeniyet Medical Journal, 2022, v. 37, n. 1, p. 62, doi. 10.4274/MMJ.galenos.2022.22747
- By:
- Publication type:
- Article
A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.
- Published in:
- Immunologic Research, 2021, v. 69, n. 5, p. 461, doi. 10.1007/s12026-021-09222-3
- By:
- Publication type:
- Article
Molecular Genetic Approach to Craniosynostosis Patients and Whole Genome Array CGH Analysis of Nonsyndromic Cases.
- Published in:
- Gazi Medical Journal, 2021, v. 32, n. 2, p. 208, doi. 10.12996/gmj.2021.46
- By:
- Publication type:
- Article
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 510, doi. 10.3390/genes12040510
- By:
- Publication type:
- Article
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.
- Published in:
- Molecular Biology Reports, 2021, v. 48, n. 2, p. 1465, doi. 10.1007/s11033-021-06158-7
- By:
- Publication type:
- Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
- By:
- Publication type:
- Article
Novel variants in Turkish patients with glycogen storage disease.
- Published in:
- Pediatrics International, 2020, v. 62, n. 10, p. 1145, doi. 10.1111/ped.14286
- By:
- Publication type:
- Article
Does fetal MR alter the management of pregnancy in the diagnosis of isolated corpus callosum agenesis?
- Published in:
- Perinatal Journal / Perinatoloji Dergisi, 2020, v. 28, n. 2, p. 113, doi. 10.2399/prn.20.0282015
- By:
- Publication type:
- Article
L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi.
- Published in:
- Türk Pediatri Arşivi, 2020, v. 55, n. 3, p. 290, doi. 10.14744/TurkPediatriArs.2019.06926
- By:
- Publication type:
- Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 112, doi. 10.1093/brain/awz374
- By:
- Publication type:
- Article
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
- By:
- Publication type:
- Article
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1142, doi. 10.1111/exd.13723
- By:
- Publication type:
- Article
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
- By:
- Publication type:
- Article
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 257, doi. 10.24953/turkjped.2019.02.015
- By:
- Publication type:
- Article
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 1, p. 283, doi. 10.1007/s11011-018-0354-8
- By:
- Publication type:
- Article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5378, doi. 10.1093/hmg/ddv261
- By:
- Publication type:
- Article
Congenital cataract as an only sign in Down Syndome: case report.
- Published in:
- 2014
- By:
- Publication type:
- Abstract
Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2535, doi. 10.1002/ajmg.a.36683
- By:
- Publication type:
- Article