Search Results - "Kumar, Virang"
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Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
Published in Case reports in ophthalmological medicine (2020)“…Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular…”
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Bifocal pineal and suprasellar germinomas with posterior fossa metastases in an adolescent patient
Published in Radiology case reports (01-12-2022)“…Central nervous system germ cell tumors are rare lesions that are more frequently seen in the pediatric age group. Intracranial germinomas are a type of these…”
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eP176 - Ocular features in Jeune syndrome and other IFT140-related ciliopathies
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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eP145 - Ophthalmic features in Wieacker-Wolff syndrome: a case report and systematic review
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Ophthalmic features in Wieacker-Wolff syndrome: a case report and systematic review
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Ocular features in Jeune syndrome and other IFT140-related ciliopathies
Published in Molecular genetics and metabolism (01-04-2021)Get full text
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Ophthalmic abnormalities in Wieacker-Wolff syndrome
Published in Journal of AAPOS (01-04-2022)“…Wieacker-Wolff syndrome is an X-linked condition caused by variants of the ZC4H2 gene that results in in utero muscular weakness that manifests clinically as…”
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Shank3‐deficient thalamocortical neurons show HCN channelopathy and alterations in intrinsic electrical properties
Published in The Journal of physiology (01-04-2018)“…Key points Shank3 increases the HCN channel surface expression in heterologous expression systems. Shank3Δ13–16 deficiency causes significant reduction in HCN2…”
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Description of Laparoscopic Tubal Ligation Procedure Outcomes from Mobile Surgery Units in Ecuador
Published in Journal of the American College of Surgeons (01-10-2019)Get full text
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Ophthalmic features in hereditary sensory neuropathy type 1A: a case report and systematic review
Published in Journal of AAPOS (01-08-2021)Get full text
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The epidemiology of strabismus and cataracts within a pediatric population in Saint Vincent and the Grenadines: an analysis of 201 consecutive cases
Published in International journal of molecular epidemiology and genetics (2023)“…Childhood cataracts and strabismus are among the most common causes of visual impairment in children worldwide, and prompt diagnosis and correction can…”
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Bifocal pineal and suprasellar germinomas with posterior fossa metastases in an adolescent patient
Published in Radiology case reports (01-12-2022)Get full text
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