• 356 Citations
  • 8 h-Index
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Fingerprint Dive into the research topics where Nivedita Patni is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 14 Similar Profiles
Congenital Generalized Lipodystrophy Medicine & Life Sciences
Lipodystrophy Medicine & Life Sciences
Hypertriglyceridemia Medicine & Life Sciences
Lamin Type A Medicine & Life Sciences
Mutation Medicine & Life Sciences
Triglycerides Medicine & Life Sciences
Fats Chemical Compounds
Adipose Tissue Medicine & Life Sciences

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Research Output 2009 2019

  • 356 Citations
  • 8 h-Index
  • 19 Article
  • 1 Comment/debate

Case 3: Hypoglycemia in an Infant with Cholestasis

Patni, N., Collins, K. & White, P., Sep 1 2019, In : Pediatrics in review. 40, 9, p. 488-490 3 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
3 Citations (Scopus)

Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants

Patni, N., Li, X., Huet, B. A., Vasandani, C., Gomez-Diaz, R. A. & Garg, A., Apr 1 2019, In : The Journal of clinical endocrinology and metabolism. 104, 4, p. 1099-1108 10 p.

Research output: Contribution to journalArticle

Lamin Type A
Adipose Tissue
7 Citations (Scopus)

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

Hussain, I., Patni, N., Ueda, M., Sorkina, E., Valerio, C. M., Cochran, E., Brown, R. J., Peeden, J., Tikhonovich, Y., Tiulpakov, A., Stender, S. R. S., Klouda, E., Tayeh, M. K., Innis, J. W., Meyer, A., Lal, P., Godoy-Matos, A. F., Teles, M. G., Adams-Huet, B., Rader, D. J. & 3 others, Hegele, R. A., Oral, E. A. & Garg, A., Mar 1 2018, In : The Journal of clinical endocrinology and metabolism. 103, 3, p. 1005-1014 10 p.

Research output: Contribution to journalArticle

Congenital Generalized Lipodystrophy
Lamin Type A
6 Citations (Scopus)

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Wambach, J. A., Wegner, D. J., Patni, N., Kircher, M., Willing, M. C., Baldridge, D., Xing, C., Agarwal, A. K., Vergano, S. A. S., Patel, C., Grange, D. K., Kenney, A., Najaf, T., Nickerson, D. A., Bamshad, M. J., Cole, F. S. & Garg, A., Dec 6 2018, In : American Journal of Human Genetics. 103, 6, p. 968-975 8 p.

Research output: Contribution to journalArticle

Loss of Heterozygosity
Tooth Abnormalities
RNA Polymerase III