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Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 5/6, p. 309, doi. 10.1159/000510480
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- Publication type:
- Article
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 312, doi. 10.1159/000494995
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- Publication type:
- Article
Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century !
- Published in:
- Indian Pediatrics, 2022, v. 59, n. 11, p. 875, doi. 10.1007/s13312-022-2647-6
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- Publication type:
- Article
Erratum to: Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
- Published in:
- Indian Pediatrics, 2022, v. 59, n. 6, p. 463, doi. 10.1007/s13312-022-2537-y
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- Publication type:
- Article
Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic.
- Published in:
- 2021
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- Publication type:
- Letter
Mutation and Phenotypic Spectrum of Patients With RASopathies.
- Published in:
- Indian Pediatrics, 2021, v. 58, n. 1, p. 30, doi. 10.1007/s13312-021-2092-y
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- Publication type:
- Article
Next Generation Clinical Practice — It's Man Versus Artificial Intelligence!
- Published in:
- 2019
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- Publication type:
- Editorial
Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know?
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 9, p. 757, doi. 10.1007/s13312-019-1637-9
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- Publication type:
- Article
Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 3, p. 221, doi. 10.1007/s13312-019-1504-8
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- Publication type:
- Article
Ethylmalonic encephalopathy in an Indian boy.
- Published in:
- Indian Pediatrics, 2016, v. 53, n. 10, p. 914, doi. 10.1007/s13312-016-0959-0
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- Publication type:
- Article
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 4, p. 226, doi. 10.1038/jhg.2012.156
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- Publication type:
- Article
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia.
- Published in:
- Case Reports in Genetics, 2023, p. 1, doi. 10.1155/2023/7974886
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- Publication type:
- Article
Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome.
- Published in:
- Journal of Paediatrics & Child Health, 2009, v. 45, n. 7/8, p. 469, doi. 10.1111/j.1440-1754.2009.01537.x
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- Publication type:
- Article
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1904, doi. 10.1002/ajmg.a.62692
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- Publication type:
- Article
Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 953, doi. 10.1002/ajmg.a.61534
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- Publication type:
- Article
The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 480, doi. 10.1002/ajmg.a.61030
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- Publication type:
- Article
Is the diagnostic yield influenced by the indication for fetal autopsy?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2119, doi. 10.1002/ajmg.a.37743
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- Publication type:
- Article
Novel and recurrent mutations in WISP3 and an atypical phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2481, doi. 10.1002/ajmg.a.37164
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- Publication type:
- Article
Hypervitaminosis D and Acute Interstitial Nephritis: Tale of Injections.
- Published in:
- Indian Journal of Nephrology, 2022, v. 32, n. 1, p. 71, doi. 10.4103/ijn.IJN_389_20
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- Publication type:
- Article
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
- Published in:
- 2018
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- Publication type:
- journal article
Leber's hereditary optic neuropathy with molecular characterization in two Indian families.
- Published in:
- 2005
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- Publication type:
- journal article
Fetal valproate syndrome as a phenocopy of Kleefstra syndrome.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 15, p. 1205, doi. 10.1002/bdr2.1379
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- Publication type:
- Article
Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy.
- Published in:
- Indian Pediatrics, 2016, v. 53, n. 8, p. 732, doi. 10.1007/s13312-016-0920-2
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- Publication type:
- Article
Mitochondrial DNA depletion syndrome causing liver failure.
- Published in:
- Indian Pediatrics, 2014, v. 51, n. 8, p. 666, doi. 10.1007/s13312-014-0475-z
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- Publication type:
- Article
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01153-4
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- Publication type:
- Article
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 82, doi. 10.1002/jmd2.12156
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- Publication type:
- Article
Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 12, doi. 10.1002/jmd2.12111
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- Publication type:
- Article
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 542, doi. 10.1111/cge.14037
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- Publication type:
- Article
Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 198, doi. 10.1111/cge.13796
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- Publication type:
- Article
Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K).
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 5, p. 309, doi. 10.1111/ahg.12256
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- Publication type:
- Article
LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 3, p. 413, doi. 10.4103/aian.AIAN_1262_20
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- Publication type:
- Article
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 827, doi. 10.1007/s10545-011-9286-8
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- Publication type:
- Article
Familial Prion Disease: First Indian Kindred with Gerstmann-Sträussler-Scheinker Syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
Citrin deficiency: A treatable cause of acute psychosis in adults.
- Published in:
- 2015
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- Publication type:
- Case Study
CEDNIK Syndrome – A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.
- Published in:
- 2024
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- Publication type:
- Letter
Methylmalonic Acidemia – Matter Most Awaited!
- Published in:
- 2024
- By:
- Publication type:
- Editorial
Next-Generation Sequencing in Unexplained Intellectual Disability.
- Published in:
- Indian Journal of Pediatrics, 2024, v. 91, n. 7, p. 682, doi. 10.1007/s12098-023-04820-5
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- Publication type:
- Article
Antenatal Phenotype of Desbuquois Dysplasia.
- Published in:
- Indian Journal of Pediatrics, 2023, v. 90, n. 1, p. 83, doi. 10.1007/s12098-022-04386-8
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- Publication type:
- Article
Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend.
- Published in:
- 2021
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- Publication type:
- Editorial
A Young Infant with Joint Swellings and Subcutaneous Nodules.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia.
- Published in:
- Indian Journal of Pediatrics, 2021, v. 88, n. 3, p. 266, doi. 10.1007/s12098-020-03466-x
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- Publication type:
- Article
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.
- Published in:
- 2020
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- Publication type:
- journal article
Inborn Errors of Metabolism in India- Where We are At!
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.
- Published in:
- 2015
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- Publication type:
- journal article
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1336, doi. 10.1002/humu.24263
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- Publication type:
- Article
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172
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- Publication type:
- Article
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing.
- Published in:
- Indian Journal of Pediatrics, 2015, v. 82, n. 5, p. 474, doi. 10.1007/s12098-014-1608-z
- By:
- Publication type:
- Article