Found: 12
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Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India.
- Published in:
- Indian Pediatrics, 2019, v. 56, n. 7, p. 556, doi. 10.1007/s13312-019-1553-z
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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
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other.
- Published in:
- 2006
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- Publication type:
- journal article
Chromosomal Abnormalities in Amenorrhea: A Retrospective Study and Review of 637 Patients in South India.
- Published in:
- 2013
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- Publication type:
- Journal Article
Chromosomal Abnormalities in Amenorrhea: A Retrospective Study and Review of 637 Patients in South India.
- Published in:
- Archives of Iranian Medicine (AIM), 2013, v. 16, n. 5, p. 267
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- Publication type:
- Article
A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia.
- Published in:
- 2014
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- Publication type:
- Case Study
Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation.
- Published in:
- Journal of Research in Medical Sciences, 2012, v. 17, n. 6, p. 572
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- Publication type:
- Article
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.
- Published in:
- 2016
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- Publication type:
- Case Study
Hemihyperplasia syndromes.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
- Published in:
- Indian Journal of Medical Research, 2015, v. 142, n. 4, p. 414, doi. 10.4103/0971-5916.169201
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- Publication type:
- Article
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome.
- Published in:
- Indian Journal of Medical Research, 2014, v. 140, n. 2, p. 221
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- Publication type:
- Article
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
- Published in:
- Indian Journal of Medical Research, 2012, v. 136, n. 6, p. 1048
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- Publication type:
- Article