Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

276 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: girisha km. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP, Madkaikar M, Dalvi A, Gupta M, Bustamante J, Sharma M, Rawat A, Bhatia P, Bhat KG, Rao S, Kamath N, Moideen F, Latour S, Winter S, Bhavani GS, Girisha KM. Lashkari HP, et al. Among authors: girisha km. Indian J Pediatr. 2022 Mar;89(3):233-242. doi: 10.1007/s12098-021-03936-w. Epub 2021 Nov 26. Indian J Pediatr. 2022. PMID: 34826056 Free PMC article.
A novel sequence variant in SFRP4 causing Pyle disease.
Galada C, Shah H, Shukla A, Girisha KM. Galada C, et al. Among authors: girisha km. J Hum Genet. 2017 Apr;62(5):575-576. doi: 10.1038/jhg.2016.166. Epub 2017 Jan 19. J Hum Genet. 2017. PMID: 28100910
276 results