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

89 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Congenital myopathy is caused by mutation of HACD1.
Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Muhammad E, et al. Among authors: parvari r. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. Hum Mol Genet. 2013. PMID: 23933735 Free PMC article.
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R. Muhammad E, et al. Among authors: parvari r, parvari g. Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24. Hum Genet. 2011. PMID: 21184099
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R. Muhammad E, et al. Among authors: parvari r. Hum Mol Genet. 2015 Dec 20;24(25):7227-40. doi: 10.1093/hmg/ddv423. Epub 2015 Oct 12. Hum Mol Genet. 2015. PMID: 26464484 Free PMC article.
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R. Reish O, et al. Among authors: parvari r. Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9. Hum Mutat. 2016. PMID: 27060491 Free PMC article.
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.
Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R. Arafat M, et al. Among authors: parvari r. J Med Genet. 2017 Sep;54(9):633-639. doi: 10.1136/jmedgenet-2017-104514. Epub 2017 May 23. J Med Genet. 2017. PMID: 28536242
89 results