• 376 Citations
  • 8 h-Index
20092019

Research output per year

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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.

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Research Output

  • 376 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 Scopus citations

    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

  • 3 Scopus citations

    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

  • 8 Scopus citations

    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

  • 7 Scopus citations