Found: 49
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Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 285, doi. 10.1038/jhg.2015.27
- By:
- Publication type:
- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 223, doi. 10.1038/jhg.2014.5
- By:
- Publication type:
- Article
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1041, doi. 10.1002/ajmg.a.38089
- By:
- Publication type:
- Article
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0687-5
- By:
- Publication type:
- Article
Identification of deletion-duplication in <italic>HEXA</italic> gene in five children with Tay-Sachs disease from India.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0632-7
- By:
- Publication type:
- Article
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0593-x
- By:
- Publication type:
- Article
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0367-x
- By:
- Publication type:
- Article
Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039122
- By:
- Publication type:
- Article
Harlequin ichthyosis due to novel splice site mutation in the <italic>ABCA12</italic> gene: postnatal to prenatal diagnosis.
- Published in:
- International Journal of Dermatology, 2018, v. 57, n. 4, p. 428, doi. 10.1111/ijd.13923
- By:
- Publication type:
- Article
Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.
- Published in:
- International Journal of Dermatology, 2015, v. 54, n. 11, p. e487, doi. 10.1111/ijd.13022
- By:
- Publication type:
- Article
Bloom syndrome: report of two cases in siblings.
- Published in:
- International Journal of Dermatology, 2013, v. 52, n. 8, p. 990, doi. 10.1111/j.1365-4632.2011.05385.x
- By:
- Publication type:
- Article
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1100, doi. 10.1038/ejhg.2013.17
- By:
- Publication type:
- Article
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
- By:
- Publication type:
- Article
Lysosomal storage disorders in Indian children with neuroregression attending a genetic center.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 12, p. 1029, doi. 10.1007/s13312-015-0768-x
- By:
- Publication type:
- Article
Diagnostic Dilemma in Overlapping Congenital Syndromes.
- Published in:
- Indian Pediatrics, 2013, v. 50, n. 1, p. 157, doi. 10.1007/s13312-013-0006-3
- By:
- Publication type:
- Article
Supernumerary Marker Chromosome in a Child with Microcephaly and Mental Retardation.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Niemann-Pick Type C Disease.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 265, doi. 10.1002/jmd2.12374
- By:
- Publication type:
- Article
Application of Genetics in Clinical Practice.
- Published in:
- Indian Practitioner, 2021, v. 74, n. 7, p. 33
- By:
- Publication type:
- Article
STUDY OF ANTICARDIOLIPIN ANTIBODIES IN REPEATED ABORTIONS - AN INSTITUTIONAL EXPERIENCE.
- Published in:
- Indian Journal of Pathology & Microbiology, 2001, v. 44, n. 2, p. 117
- By:
- Publication type:
- Article
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0571-0
- By:
- Publication type:
- Article
Prenatal screening of cytogenetic anomalies - a Western Indian experience.
- Published in:
- BMC Pregnancy & Childbirth, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12884-015-0519-y
- By:
- Publication type:
- Article
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0339-z
- By:
- Publication type:
- Article
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0163-2
- By:
- Publication type:
- Article
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00796-9
- By:
- Publication type:
- Article
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00374-x
- By:
- Publication type:
- Article
Pure interstitial dup(6)(q22.31q22.31) - a case report.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0113-y
- By:
- Publication type:
- Article
Pure interstitial dup(6)(q22.31q22.31) - a case report.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 47, doi. 10.1186/s13052-015-0113-y
- By:
- Publication type:
- Article
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
- Published in:
- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03341-0
- By:
- Publication type:
- Article
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.
- Published in:
- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03065-1
- By:
- Publication type:
- Article
Does vitamin D play a significant role in type 2 diabetes?
- Published in:
- BMC Endocrine Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12902-015-0003-8
- By:
- Publication type:
- Article
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/428075
- By:
- Publication type:
- Article
Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/153405
- By:
- Publication type:
- Article
PRENATAL EXCLUSION OF LAMELLER ICHTHYOSIS BASED ON TWO NOVEL MUTATIONS IN TGM 1 GENE.
- Published in:
- Indian Journal of Dermatology, 2006, v. 51, n. 4, p. 281, doi. 10.4103/0019-5154.30296
- By:
- Publication type:
- Article
Plasma chitotriosidase activity in children with lysosomal storage disorders.
- Published in:
- Indian Journal of Pediatrics, 2010, v. 77, n. 2, p. 203, doi. 10.1007/s12098-009-0249-0
- By:
- Publication type:
- Article
Ring chromosome 9 in a dysmorphic child.
- Published in:
- Indian Journal of Pediatrics, 2007, v. 74, n. 5, p. 507, doi. 10.1007/s12098-007-0090-2
- By:
- Publication type:
- Article
Corrigendum.
- Published in:
- 2002
- By:
- Publication type:
- Correction Notice
Fetal malformations caused by amnion rupture.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A three way complex translocation (4; 9; 22) in two patients with chronic myelocytic leukemia.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-03955-w
- By:
- Publication type:
- Article
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
- Published in:
- BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08693-4
- By:
- Publication type:
- Article