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Esra Kılıç

Hacettepe University

20

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191

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Preparation of electrospun polyurethane nanofiber mats for the release of doxorubicine

2018 Journal of Materials Science: Materials in Medicine
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First cardiac manifestation of hypotonia-cystinuria syndrome

2018 Metabolic Brain Disease
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Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

2017 American Journal of Medical Genetics Part A
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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

2017 American Journal of Human Genetics
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A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

2016 Journal of Child Neurology
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

2016 American Journal of Human Genetics
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A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.

2015 American Journal of Medical Genetics Part A
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A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.

2014 Turkish Journal of Pediatrics
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Prenatal diagnosis in a fetus with de-novo 20q11.2q13.1 deletion and review of the literature.

2014 Clinical Dysmorphology
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A Case of 22q11.2 Deletion Syndrome with Right Microphthalmia and Left Corneal Staphyloma

2014 Ophthalmic Genetics
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Citations (4)