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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

133 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O. Edvardson S, et al. Among authors: frumkin a. J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7. J Med Genet. 2013. PMID: 23393310
A human laterality disorder associated with a homozygous WDR16 deletion.
Ta-Shma A, Perles Z, Yaacov B, Werner M, Frumkin A, Rein AJ, Elpeleg O. Ta-Shma A, et al. Among authors: frumkin a. Eur J Hum Genet. 2015 Sep;23(9):1262-5. doi: 10.1038/ejhg.2014.265. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469542 Free PMC article.
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A. Maor-Sagie E, et al. Among authors: frumkin a. J Assist Reprod Genet. 2015 Jun;32(6):887-91. doi: 10.1007/s10815-015-0445-y. Epub 2015 Apr 22. J Assist Reprod Genet. 2015. PMID: 25899990 Free PMC article.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S, Cederboim SH, Duvdevani MP, Frumkin A, Zilkha A, Kapuller V, Arbell D, Cohen E, Eventov-Friedman S. Banne E, et al. Among authors: frumkin a. JIMD Rep. 2016;26:31-6. doi: 10.1007/8904_2015_474. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238251 Free PMC article.
Role of late amniocentesis in the era of modern genomic technologies.
Daum H, Ben David A, Nadjari M, Zenvirt S, Helman S, Yanai N, Meiner V, Yagel S, Frumkin A, Shkedi Rafid S; collaborating authors. Daum H, et al. Among authors: frumkin a. Ultrasound Obstet Gynecol. 2019 May;53(5):676-685. doi: 10.1002/uog.20113. Epub 2019 Apr 12. Ultrasound Obstet Gynecol. 2019. PMID: 30155922 Free article.
133 results