Found: 13
Select item for more details and to access through your institution.
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
- By:
- 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
- By:
- Publication type:
- Article
Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1550, doi. 10.1002/ajmg.a.62134
- By:
- Publication type:
- Article
Ayme gripp syndrome in an Indian patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1312, doi. 10.1002/ajmg.a.62053
- By:
- Publication type:
- Article
Wolf–Hirschhorn syndrome: A case series from India.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3048, doi. 10.1002/ajmg.a.61856
- By:
- Publication type:
- Article
Indian child with novel variant in OFD1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2236, doi. 10.1002/ajmg.a.61768
- By:
- Publication type:
- Article
Sotos syndrome in two children from India.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2181, doi. 10.1002/ajmg.a.61751
- By:
- Publication type:
- Article
Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 4, p. 140, doi. 10.1111/cga.12414
- By:
- Publication type:
- Article
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01633-1
- By:
- Publication type:
- Article
How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios.
- Published in:
- Neurology India, 2022, v. 70, n. 1, p. 148, doi. 10.4103/0028-3886.338651
- By:
- Publication type:
- Article
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1155211
- By:
- Publication type:
- Article
Clinical profile of symptomatic congenital cytomegalovirus infection: cases from a tertiary hospital in north India.
- Published in:
- 2020
- By:
- Publication type:
- journal article