Author/Creator: Rughani, Ankur - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Rughani, Ankur

1. Novel compound heterozygous variants in the NBAS gene in a child with osteogenesis imperfecta and recurrent acute liver failure. Issue 2 (4th February 2021)

Authors:: Krishnan, Sowmya; Rughani, Ankur; Tsai, Anne; Palle, Sirish
Journal:: BMJ case reports
Issue:: Volume 14:Issue 2(2021)
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Record Type:: Journal Article
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2. Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications. (6th August 2020)

Authors:: Rughani, Ankur; Blick, Kenneth; Pang, Hui; Marin, Monica; Meyer, Jonathan; Tryggestad, Jeanie B.
Other Names:: Karagüzel Gulay Academic Editor.
Journal:: Case reports in pediatrics
Issue:: Volume 2020(2020)
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Record Type:: Journal Article
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3. Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein. (22nd January 2020)

Authors:: Rughani, Ankur; Zhang, Dongsheng; Vairamani, Kanimozhi; Dauber, Andrew; Hwa, Vivian; Krishnan, Sowmya
Journal:: Clinical endocrinology
Issue:: Volume 92:Number 4(2020)
Page Start:: 331
Record Type:: Journal Article
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