Works matching AU Panigrahi, Inusha
Results: 92
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
- Published in:
- 2024
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- Publication type:
- Case Study
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.
- Published in:
- 2021
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- Publication type:
- Case Study
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.
- Published in:
- Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/3108093
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- Publication type:
- Article
Methylmalonic Acidemia with Novel MUT Gene Mutations.
- Published in:
- 2017
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- Publication type:
- Case Study
Growth charts for weight and height of Indian children with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63571
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- Publication type:
- Article
X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1550, doi. 10.1002/ajmg.a.62134
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- Publication type:
- Article
COFS type 3 in an Indian family with antenatally detected arthrogryposis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 631, doi. 10.1002/ajmg.a.61979
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- Publication type:
- Article
Wolf–Hirschhorn syndrome: A case series from India.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3048, doi. 10.1002/ajmg.a.61856
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- Publication type:
- Article
Indian child with novel variant in OFD1 gene.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2236, doi. 10.1002/ajmg.a.61768
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- Publication type:
- Article
Sotos syndrome in two children from India.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2181, doi. 10.1002/ajmg.a.61751
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- Publication type:
- Article
Long-term response to deferiprone therapy in Asian Indians.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Long-term response to deferiprone therapy in Asian Indians.
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- Annals of Hematology, 2010, v. 89, n. 2, p. 135, doi. 10.1007/s00277-009-0797-4
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- Publication type:
- Article
A novel beta-globin mutation (HBB:c.107A>G; or codon 35 β (A→G)) at alpha–beta chain interfaces.
- Published in:
- 2009
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- Publication type:
- Letter
Auxological Dynamics of Cephalic Index in Indian Children with Down Syndrome: A Longitudinal Study.
- Published in:
- 2024
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- Publication type:
- Letter
Thyroid dysfunction in Indian children with down syndrome.
- Published in:
- Indian Pediatrics, 2014, v. 51, n. 9, p. 751, doi. 10.1007/s13312-014-0495-8
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- Publication type:
- Article
Concentrations of leptin, adiponectin and other metabolic parameters in non-obese children with Down syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 8, p. 831, doi. 10.1515/jpem-2016-0422
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- Publication type:
- Article
Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 8, p. 947, doi. 10.1515/jpem-2015-0351
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- Publication type:
- Article
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 185, doi. 10.1515/jpem-2013-0184
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- Publication type:
- Article
Lissencephaly presenting with congenital hypothyroidism.
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- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1175, doi. 10.1515/jpem-2013-0102
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- Publication type:
- Article
Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 9/10, p. 1001, doi. 10.1515/jpem-2012-0099
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- Publication type:
- Article
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
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- Publication type:
- Article
The expanding spectrum of thalassemia intermedia.
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- Hematology, 2009, v. 14, n. 6, p. 311, doi. 10.1179/102453309X12473408860307
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- Publication type:
- Article
Genetic determinants of phenotype in beta-thalassemia.
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- Hematology, 2008, v. 13, n. 4, p. 247, doi. 10.1179/102453308X316031
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- Publication type:
- Article
Chronic lymphocytic leukemia in India-A clinico-hematological profile.
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- Hematology, 2007, v. 12, n. 3, p. 229, doi. 10.1080/10245330701255064
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- Publication type:
- Article
Cytochemical, immunophenotypic and ultrastructural characterization of acute leukemias: A prospective study of fifty cases.
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- Hematology, 2006, v. 11, n. 3, p. 147, doi. 10.1080/10245330600774884
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- Publication type:
- Article
Jaundice and alpha gene triplication in beta-thalassemia: Association or causation?
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- Hematology, 2006, v. 11, n. 2, p. 109, doi. 10.1080/1024533050069882
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- Publication type:
- Article
Prevalence of SRY and DAX-1 gene deletion in patients with Cryptorchidism and Hypospadias - A Pilot study in North Indian Children.
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- Asian Journal of Medical Sciences, 2016, v. 7, n. 1, p. 24, doi. 10.3126/ajms.v7i1.12781
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- Publication type:
- Article
Clinical profile of symptomatic congenital cytomegalovirus infection: cases from a tertiary hospital in north India.
- Published in:
- 2020
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- Publication type:
- journal article
Ascariasis-associated worm encephalopathy in a young child.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
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- Congenital Anomalies, 2021, v. 61, n. 4, p. 140, doi. 10.1111/cga.12414
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- Publication type:
- Article
Genetic diagnosis of skeletal dysplasias causing short stature in children.
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- Journal of Pediatric Endocrinology & Diabetes, 2023, v. 3, n. 1, p. 1, doi. 10.25259/JPED_24_2023
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- Publication type:
- Article
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 85, doi. 10.1002/jmd2.12407
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- Publication type:
- Article
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1155211
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- Publication type:
- Article
Urinary Malondialdehyde Levels in Newborns following Delivery Room Resuscitation.
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- Neonatology (16617800), 2008, v. 94, n. 2, p. 96, doi. 10.1159/000116633
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- Publication type:
- Article
Zolendronate in Osteogenesis Imperfecta.
- Published in:
- 2009
- By:
- Publication type:
- Letter
KLHL40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 4, p. 222, doi. 10.4103/jpn.JPN_60_19
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- Publication type:
- Article
Down Syndrome with Moyamoya Disease: A Case Series.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 2, p. 201, doi. 10.4103/jpn.JPN_116_17
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- Publication type:
- Article
Single gene variants causing deafness in Asian Indians.
- Published in:
- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-021-01288-0
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- Publication type:
- Article
Primordial dwarfism: overview of clinical and genetic aspects.
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- Molecular Genetics & Genomics, 2016, v. 291, n. 1, p. 1, doi. 10.1007/s00438-015-1110-y
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- Publication type:
- Article
Response to zolendronic acid in children with type III osteogenesis imperfecta.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Warty Fingers and Toes in a Child With Congenital Lymphedema: Elephantiasis Nostras Verrucosa.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 3, p. 279, doi. 10.4274/jcrpe.galenos.2024.2023-11-7
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- Publication type:
- Article
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries.
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- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 1, p. 41, doi. 10.4274/jcrpe.galenos.2023.2023-3-13
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- Publication type:
- Article
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 274, doi. 10.4274/jcrpe.5501
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- Publication type:
- Article
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 47, doi. 10.1111/cge.14509
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- Publication type:
- Article
A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 16, doi. 10.1111/cge.14228
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- Publication type:
- Article
Severe liver dysfunction in an infant with cystic fibrosis masquerading as metabolic liver disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.
- Published in:
- Laboratory Medicine, 2022, v. 53, n. 3, p. e59, doi. 10.1093/labmed/lmab084
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- Publication type:
- Article
Achondroplasia—First Report from India of a Rare FGFR3 Gene Variant.
- Published in:
- Laboratory Medicine, 2021, v. 52, n. 5, p. 499, doi. 10.1093/labmed/lmaa116
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- Publication type:
- Article