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| 37953324 | The Human Phenotype Ontology in 2024: phenotypes around the world. | Nucleic Acids Res | 2024 |
| 37476890 | Effectiveness of ultrasonography-guided caudal epidural steroid injection compared to the fluoroscopic application. | Turk J Med Sci | 2023 |
| 34670952 | In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency. | Appl Immunohistochem Mol Morphol | 2022 |
| 35690317 | Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. | Eur J Med Genet | 2022 |
| 36333305 | Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. | Nat Commun | 2022 |
| 36030551 | Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. | Hum Mutat | 2022 |
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| 33713555 | A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. | Am J Med Genet A | 2021 |
| 33645921 | Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report. | Am J Med Genet A | 2021 |
| 33978217 | Pregabalin does not Cause Midline Closure Defect but is not as Innocent as It is Thought. | Turk Neurosurg | 2021 |
| 31767933 | A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. | J Hum Genet | 2020 |
| 30476213 | Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. | Nucleic Acids Res | 2019 |
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| 31455396 | Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. | Orphanet J Rare Dis | 2019 |
| 31230720 | The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. | Am J Hum Genet | 2019 |
| 30791088 | A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. | Clin Genet | 2019 |
| 31134736 | Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. | Am J Med Genet A | 2019 |
| 29030794 | VEGF-A gene polymorphisms and responses to intravitreal ranibizumab treatment in patients with diabetic macular edema. | Int Ophthalmol | 2018 |
| 29864108 | A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly. | Clin Dysmorphol | 2018 |
| 29899504 | A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. | J Hum Genet | 2018 |
| 30405941 | Three Single Nucleotide Polymorphisms of <i>LOXL1</i>' in a Turkish Population with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma. | Turk J Ophthalmol | 2018 |
| 30389422 | Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation. | Neuromuscul Disord | 2018 |
| 29449720 | Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. | Eur J Hum Genet | 2018 |
| 29605658 | Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. | Eur J Med Genet | 2018 |
| 22801457 | Biomechanics of Cervical "Skip" Corpectomy Versus Standard Multilevel Corpectomy. | Clin Spine Surg | 2017 |
| 28243372 | Histopathological Analysis of Ligamentum Flavum in Lumbar Spinal Stenosis and Disc Herniation. | Asian Spine J | 2017 |
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| 28264241 | Impact of Position on Efficacy of Caudal Epidural Injection for Low Back Pain and Radicular Leg Pain Due to Central Spinal Stenosis and Lumbar Disc Hernia. | J Korean Neurosurg Soc | 2017 |
| 28646613 | Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. | J Eur Acad Dermatol Venereol | 2017 |
| 27913258 | An Experimental Study on the Effects of Smoking in the Perinatal Period and During Lactation on the Intervertebral Disks of Newborns. | World Neurosurg | 2017 |
| 27476923 | Impact of Magnetic Field on Pressures of Programmable Cerebrospinal Fluid Shunts: An Experimental Study. | Turk Neurosurg | 2017 |
| 26911863 | A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. | Hum Reprod | 2016 |
| 28345069 | An uncommon case mimicking cervical trauma: Os odontoideum. | Turk J Emerg Med | 2016 |
| 27559444 | Ankylosing Spondylitis: Patterns of Spinal Injury and Treatment Outcomes. | Asian Spine J | 2016 |
| 24781755 | Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. | Eur J Hum Genet | 2015 |
| 26929908 | Early onset marfan syndrome: Atypical clinical presentation of two cases. | Balkan J Med Genet | 2015 |
| 25714560 | A novel KIF7 mutation in two affected siblings with acrocallosal syndrome. | Clin Dysmorphol | 2015 |
| 25797773 | Asymmetric Posterior Thoracolumbar Fixation following a Posterolateral Transpedicular Approach for Unilateral Vertebral Disease. | Neurol Med Chir (Tokyo) | 2015 |
| 25494311 | Oxidative/Nitrosative Stress in Patients With Modic Changes: Preliminary Controlled Study. | Spine (Phila Pa 1976) | 2015 |
| 24778650 | Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea. | Int J Endocrinol | 2014 |
| 26078652 | A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene. | Turk Pediatri Ars | 2014 |
| 25284784 | De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. | Cell Rep | 2014 |
| 24783650 | Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization? | Genet Couns | 2014 |
| 23588971 | Medicinal plant extract (Ankaferd Blood Stopper) application in deep tissue injuries in rats: histopathological investigation of the effect on regional and systemic tissues. | Ulus Travma Acil Cerrahi Derg | 2013 |
| 23959413 | Ruptured distal middle cerebral artery aneurysm: Case report. | Int J Surg Case Rep | 2013 |
| 22821313 | Evaluation of degenerative diseases of the lumbar spine with reformatted and 3-dimensional computed tomography images. | Saudi Med J | 2012 |
| 23072185 | Partial trisomies of 8q and 15q due to maternal balanced translocations. | Genet Couns | 2012 |
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