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| 36326140 | Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey. | Am J Med Genet A | 2023 |
| 37758162 | Investigation of (Epi)genetic causes in syndromic short children born small for gestational age. | Eur J Med Genet | 2023 |
| 37704070 | The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120. | Bone | 2023 |
| 37534463 | Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey. | Turk Arch Pediatr | 2023 |
| 37317574 | Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas. | Turk Arch Pediatr | 2023 |
| 37053206 | The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review. | Am J Med Genet A | 2023 |
| 36946378 | Clinical features of generalized lipodystrophy in Turkey: A cohort analysis. | Diabetes Obes Metab | 2023 |
| 37315079 | IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. | PLoS Genet | 2023 |
| 36980758 | Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients. | Cancers (Basel) | 2023 |
| 36856356 | A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features. | Turk Arch Pediatr | 2023 |
| 36919607 | An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant. | Am J Med Genet A | 2023 |
| 36543534 | Biallelic frameshift variants in <i>PHLDB1</i> cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. | J Med Genet | 2023 |
| 36400164 | Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. | Bone | 2023 |
| 36504352 | Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2. | Clin Genet | 2023 |
| 36865301 | <i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humans. | medRxiv | 2023 |
| 36598218 | The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients. | Turk Arch Pediatr | 2023 |
| 36067876 | Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome. | J Pediatr | 2023 |
| 34538859 | Two novel variants and follow-up findings in four children with Bloom syndrome from two families. | Clin Dysmorphol | 2022 |
| 35418826 | The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction. | Mol Syndromol | 2022 |
| 36097644 | Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype. | Am J Med Genet A | 2022 |
| 35950747 | Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM. | Turk Arch Pediatr | 2022 |
| 35227688 | Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. | Kidney Int | 2022 |
| 34919662 | Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort. | Rheumatology (Oxford) | 2022 |
| 35221872 | Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features. | Mol Syndromol | 2022 |
| 35092157 | Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant. | Am J Med Genet A | 2022 |
| 34902613 | Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants. | Bone | 2022 |
| 35338243 | Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. | J Hum Genet | 2022 |
| 34964109 | A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. | Clin Genet | 2022 |
| 34000439 | Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings. | Eur J Med Genet | 2021 |
| 33686842 | A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response. | Turk J Pediatr | 2021 |
| 33877690 | Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients. | Ann Hum Genet | 2021 |
| 33565750 | Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome | J Clin Res Pediatr Endocrinol | 2021 |
| 33704912 | Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum. | Am J Med Genet A | 2021 |
| 33837634 | Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. | Am J Med Genet A | 2021 |
| 33747789 | Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel <i>NAGLU</i> gene mutations. | Mol Genet Metab Rep | 2021 |
| 35005728 | Neurofibromatosis Type 1 in Children: A Single-Center Experience. | Turk Arch Pediatr | 2021 |
| 34597859 | Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants. | Eur J Med Genet | 2021 |
| 34159400 | Genome sequencing in families with congenital limb malformations. | Hum Genet | 2021 |
| 34184824 | Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. | Am J Med Genet A | 2021 |
| 33987976 | Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. | Am J Med Genet A | 2021 |
| 34173012 | Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants. | Calcif Tissue Int | 2021 |
| 32655341 | Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents. | Mol Syndromol | 2020 |
| 31778856 | Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4. | Eur J Med Genet | 2020 |
| 33224012 | Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey. | Mol Syndromol | 2020 |
| 30882951 | The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. | Hum Mutat | 2019 |
| 31735666 | Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. | Dev Cell | 2019 |
| 31230720 | The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. | Am J Hum Genet | 2019 |
| 31015584 | SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. | J Hum Genet | 2019 |
| 30980944 | Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. | Gene | 2019 |
| 30733662 | A Novel Mutation of <i>KIF11</i> in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR. | Mol Syndromol | 2019 |