| NO |
AD |
YIL |
| 1 | Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Mi... | 2023 |
| 2 | Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pa... | 2023 |
| 3 | A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical ... | 2023 |
| 4 | MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9... | 2023 |
| 5 | Genetic and clinical characteristics of Turkish children with Maturity Onset Diabetes of the Young T... | 2023 |
| 6 | Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy... | 2022 |
| 7 | Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebro... | 2022 |
| 8 | Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC... | 2022 |
| 9 | A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis... | 2022 |
| 10 | Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hy... | 2022 |
| 11 | A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonici... | 2022 |
| 12 | Screening of 23 candidate genes by next generation sequencing of patients with permanent congenital ... | 2021 |
| 13 | De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality... | 2021 |
| 14 | Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric... | 2021 |
| 15 | Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum ... | 2021 |
| 16 | Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resona... | 2021 |
| 17 | Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syn... | 2021 |
| 18 | Clinical Evaluation of Patients with Classical Rett Syndrome and MECP2 Gene Analysis... | 2021 |
| 19 | De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family... | 2021 |
| 20 | A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovari... | 2020 |
| 21 | Investigation of the most common clinical and imaging findings and the role of tubulin genes in the ... | 2020 |
| 22 | Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study... | 2020 |
| 23 | Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy... | 2020 |
| 24 | Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stat... | 2020 |
| 25 | Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience... | 2020 |
| 26 | Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome... | 2020 |
| 27 | The Effects of Epigenetic Regulation on Phenotypic Expressivity in Turkish Patients with Familial Me... | 2019 |
| 28 | Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel ... | 2019 |
| 29 | The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 del... | 2019 |
| 30 | Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant.... | 2018 |
| 31 | Phenotypic spectrum of CHARGE syndrome based on clinical characteristics... | 2018 |
| 32 | Genetic Evaluation of Common Neurocutaneous Syndromes... | 2018 |
| 33 | Autoimmunity and intestinal colonization by Candida albicans in patients with type 1 diabetes at the... | 2018 |
| 34 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome... | 2018 |
| 35 | Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum... | 2018 |
| 36 | Turner Syndrome and Its Variants... | 2017 |
| 37 | Clinical and Cytogenetic evaluations of patients with Turner syndrome:Are we aware enough?... | 2017 |
| 38 | A newborn with monosomy X in association with corpus callosum agenesis... | 2017 |
| 39 | Expanding spectrum of SCN1A-related phenotype with novel mutations... | 2017 |
| 40 | Clinical, molecular, and genetic evaluation of galactosemia in Turkish children... | 2016 |
| 41 | Duchenne Müskuler Distrofi Tedavisindeki Stratejiler... | 2016 |
| 42 | Diagnostic Aproach to Genetic Causes of Early-Onset Epileptic Encephalopathy... | 2015 |
| 43 | Neonatal bacterial meningitis in Turkey: epidemiology, risk factors, and prognosis... | 2013 |
