Suchergebnisse - "Sunita Bijarnia-Mahay"

1

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

von: Sunita Bijarnia‐Mahay

2020, in: JIMD Reports

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2

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

von: Sunita Bijarnia-Mahay

2018, in: Orphanet Journal of Rare Diseases

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3

LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family

von: Sunita Bijarnia-Mahay

2021, in: Annals of Indian Academy of Neurology

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4

Weill–Marchesani syndrome: A rare cause of ectopia lentis and short stature

von: Sapna Sandal

2021, in: Indian Pediatrics Case Reports

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5

Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency

von: Vinu Narayan

2020, in: Annals of Indian Academy of Neurology

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6

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing

von: Neerja Gupta

2018, in: Indian Journal of Medical Research

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7

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

von: Veronica Arora

2019, in: Autopsy and Case Reports

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8

Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype

von: Sangeeta Khatter

2019, in: Indian Journal of Dermatology

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9

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

von: Luna Bajracharya

2023, in: Case Reports in Genetics

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10

Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

von: Minal Borkar PhD

2015, in: Journal of Inborn Errors of Metabolism and Screening

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11

Hypervitaminosis D and acute interstitial nephritis: Tale of injections

von: Vaibhav Tiwari

2022, in: Indian Journal of Nephrology

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12

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

von: Kanika Singh

2020, in: BMC Medical Genetics

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13

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

von: Naoaki Shibata

2018, in: Molecular Genetics and Metabolism Reports

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14

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

von: Sheela Nampoothiri

2020, in: JIMD Reports

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