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

198 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108.
Barak S, Anikster Y, Sarouk I, Stern E, Eisenstein E, Yissar T, Sherr-Lurie N, Raas-Rothschild A, Guttman D. Barak S, et al. Among authors: anikster y. Diagnostics (Basel). 2020 Jul 14;10(7):480. doi: 10.3390/diagnostics10070480. Diagnostics (Basel). 2020. PMID: 32674526 Free PMC article.
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Pode-Shakked B, et al. Among authors: anikster y. Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16. Clin Genet. 2017. PMID: 27807845
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, Pietikäinen LP, Hiltunen JK, Marek-Yagel D, Hamada J, Gregory A, Rogers C, Hogarth P, Nance MA, Shalva N, Veber A, Tzadok M, Nissenkorn A, Tonduti D, Renaldo F; University of Washington Center for Mendelian Genomics; Kraoua I, Panteghini C, Valletta L, Garavaglia B, Cowley MJ, Gayevskiy V, Roscioli T, Silberstein JM, Hoffmann C, Raas-Rothschild A, Tiranti V, Anikster Y, Christodoulou J, Kastaniotis AJ, Ben-Zeev B, Hayflick SJ. Heimer G, et al. Among authors: anikster y. Am J Hum Genet. 2016 Dec 1;99(6):1229-1244. doi: 10.1016/j.ajhg.2016.09.021. Epub 2016 Nov 3. Am J Hum Genet. 2016. PMID: 27817865 Free PMC article.
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Among authors: anikster y. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.
Phenotype variability in Hajdu-Cheney syndrome.
Regev M, Pode-Shakked B, Jacobson JM, Raas-Rothschild A, Goldstein DB, Anikster Y. Regev M, et al. Among authors: anikster y. Eur J Med Genet. 2019 Jan;62(1):35-38. doi: 10.1016/j.ejmg.2018.04.015. Epub 2018 Apr 23. Eur J Med Genet. 2019. PMID: 29698804
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Marek-Yagel D, Bolkier Y, Barel O, Vardi A, Mishali D, Katz U, Salem Y, Abudi S, Nayshool O, Kol N, Raas-Rothschild A, Rechavi G, Anikster Y, Pode-Shakked B. Marek-Yagel D, et al. Among authors: anikster y. Am J Med Genet A. 2020 May;182(5):987-993. doi: 10.1002/ajmg.a.61509. Epub 2020 Mar 7. Am J Med Genet A. 2020. PMID: 32144877
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: anikster y. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Kristal E, Pode-Shakked B, Hazan G, Banne E, Ling G, David O, Shany E, Raas-Rothschild A, Anikster Y, Kneller K, Hershkovitz E, Landau YE, Spiegel R, Zehavi Y, Staretz-Chacham O. Kristal E, et al. Among authors: anikster y. Orphanet J Rare Dis. 2021 Sep 8;16(1):379. doi: 10.1186/s13023-021-02007-9. Orphanet J Rare Dis. 2021. PMID: 34496908 Free PMC article.
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Pode-Shakked B, Ben-Moshe Y, Barel O, Regev LC, Kagan M, Eliyahu A, Marek-Yagel D, Atias-Varon D, Lahav E, Issler N, Shlomovitz O, Semo Oz R, Kol N, Mor N, Bar-Joseph I, Khavkin Y, Javasky E, Beckerman P, Greenberg M, Volovelsky O, Borovitz Y, Davidovits M, Haskin O, Alfandary H, Levi S, Kaidar M, Katzir Z, Angel-Korman A, Becker-Cohen R, Ben-Shalom E, Leiba A, Mor E, Dagan A, Pessach IM, Lotan D, Shashar M, Anikster Y, Raas-Rothschild A, Rechavi G, Dekel B, Vivante A. Pode-Shakked B, et al. Among authors: anikster y. Pediatr Nephrol. 2022 Jul;37(7):1623-1646. doi: 10.1007/s00467-021-05374-4. Epub 2022 Jan 7. Pediatr Nephrol. 2022. PMID: 34993602
198 results