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

248 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Among authors: shimony j. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302
A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations.
Calì T, Lopreiato R, Shimony J, Vineyard M, Frizzarin M, Zanni G, Zanotti G, Brini M, Shinawi M, Carafoli E. Calì T, et al. Among authors: shimony j. J Biol Chem. 2015 Jun 26;290(26):16132-41. doi: 10.1074/jbc.M115.656496. Epub 2015 May 7. J Biol Chem. 2015. PMID: 25953895 Free PMC article.
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Wambach JA, et al. Among authors: shimony js. Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4. Pediatr Res. 2018. PMID: 29967526 Free PMC article.
Prenatal to postnatal trajectory of brain growth in complex congenital heart disease.
Ortinau CM, Mangin-Heimos K, Moen J, Alexopoulos D, Inder TE, Gholipour A, Shimony JS, Eghtesady P, Schlaggar BL, Smyser CD. Ortinau CM, et al. Among authors: shimony js. Neuroimage Clin. 2018;20:913-922. doi: 10.1016/j.nicl.2018.09.029. Epub 2018 Sep 27. Neuroimage Clin. 2018. PMID: 30308377 Free PMC article.
248 results