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

207 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Merdler-Rabinowicz R, Pode-Shakked B, Vivante A, Lahav E, Kagan M, Chorin O, Somech R, Raas-Rothschild A. Merdler-Rabinowicz R, et al. Among authors: somech r. Pediatr Nephrol. 2021 Dec;36(12):4009-4012. doi: 10.1007/s00467-021-05216-3. Epub 2021 Sep 27. Pediatr Nephrol. 2021. PMID: 34570271
Combined immunodeficiency in a patient with mosaic monosomy 21.
Rechavi E, Levy-Mendelovich S, Stauber T, Shamash J, Reinstein S, Vernitsky H, Adam D, Simon AJ, Lev A, Raas-Rothschild A, Somech R. Rechavi E, et al. Among authors: somech r. Immunol Res. 2016 Aug;64(4):841-7. doi: 10.1007/s12026-016-8803-0. Immunol Res. 2016. PMID: 27216863
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A. Tirosh I, et al. Among authors: somech r. Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y. Pediatr Rheumatol Online J. 2019. PMID: 31362757 Free PMC article.
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
van Rijn JM, Werner L, Aydemir Y, Spronck JMA, Pode-Shakked B, van Hoesel M, Shimshoni E, Polak-Charcon S, Talmi L, Eren M, Weiss B, H J Houwen R, Barshack I, Somech R, Nieuwenhuis EES, Sagi I, Raas-Rothschild A, Middendorp S, Shouval DS. van Rijn JM, et al. Among authors: somech r. Int J Mol Sci. 2020 Nov 2;21(21):8200. doi: 10.3390/ijms21218200. Int J Mol Sci. 2020. PMID: 33147779 Free PMC article.
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban O, Pode-Shakked B, Abu-Libdeh B, Granot M, Barkai G, Haberman Y, Roterman I, Lahad A, Shouval DS, Weiss B, Marek-Yagel D, Barel O, Loberman-Nachum N, Abraham S, Somech R, Weinstein DA, Anikster Y. Steg Saban O, et al. Among authors: somech r. Eur J Med Genet. 2022 Jun;65(6):104518. doi: 10.1016/j.ejmg.2022.104518. Epub 2022 May 9. Eur J Med Genet. 2022. PMID: 35550444
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: somech r. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
207 results