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Gülen Eda Utine

Hacettepe University

109

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834

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Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.

2021 Journal of Intellectual Disability Research
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Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.

2021 European Journal of Paediatric Neurology
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Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

2021 American Journal of Medical Genetics Part A
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

2021 American Journal of Human Genetics
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Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

2021 Molecular Syndromology
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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

2021 The Cleft Palate-Craniofacial Journal
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Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.

2021 Journal of Child Neurology
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Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.

2021 Journal of Human Genetics
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Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.

2021 Journal of Intellectual Disability Research
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Novel insights into diabetes mellitus due to DNAJC3‐defect:Evolution of neurological and endocrine phenotype in the pediatric age group

2020 Pediatric Diabetes
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