Found: 17
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Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.
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- Neurogenetics, 2024, v. 25, n. 2, p. 119, doi. 10.1007/s10048-024-00751-1
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- Article
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.
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- Molecular Syndromology, 2023, v. 14, n. 1, p. 35, doi. 10.1159/000525393
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- Article
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 363, doi. 10.1159/000524391
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- Article
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.
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- Molecular Syndromology, 2022, v. 13, n. 4, p. 270, doi. 10.1159/000521330
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- Article
A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 80, doi. 10.1159/000518629
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- Article
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 56, doi. 10.1159/000516201
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- Article
A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG.
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- Turkish Journal of Gastroenterology, 2020, v. 31, n. 7, p. 508, doi. 10.5152/tjg.2020.19830
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- Article
Chanarin-Dorfman syndrome.
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- Turkish Journal of Gastroenterology, 2019, v. 30, n. 1, p. 105, doi. 10.5152/tjg.2018.18014
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- Article
Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 9-10, p. 558, doi. 10.1159/000515079
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- Article
Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 4, p. 262, doi. 10.1159/000502114
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- Article
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 218, doi. 10.1111/cge.14166
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- Article
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1287, doi. 10.1515/jpem-2019-0173
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- Article
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
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- CTS: Clinical & Translational Science, 2024, v. 17, n. 1, p. 1, doi. 10.1111/cts.13679
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- Article
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.
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- International Ophthalmology, 2023, v. 43, n. 12, p. 4573, doi. 10.1007/s10792-023-02857-1
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- Article
Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease.
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- International Ophthalmology, 2023, v. 43, n. 1, p. 333, doi. 10.1007/s10792-022-02452-w
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- Article
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8‐related intellectual developmental disorders.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63535
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- Article
Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 3, p. 350, doi. 10.4274/jcrpe.galenos.2021.2020.0301
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- Article