Yerushalmi B - Search Results

1

Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C.

Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Romi H, et al. Among authors: yerushalmi b. Am J Hum Genet. 2012 May 4;90(5):893-9. doi: 10.1016/j.ajhg.2012.03.022. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521417 Free PMC article.

2

Familial idiopathic intussusception: a report of two families.

Kurzbart E, Cohen Z, Yerushalmi B, Yulevich A, Newman-Heiman N, Mares AJ. Kurzbart E, et al. Among authors: yerushalmi b. J Pediatr Surg. 1999 Mar;34(3):493-4. doi: 10.1016/s0022-3468(99)90510-9. J Pediatr Surg. 1999. PMID: 10211665

3

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS. Landau D, et al. Among authors: yerushalmi b. Mol Genet Metab. 2004 Jun;82(2):167-72. doi: 10.1016/j.ymgme.2004.03.005. Mol Genet Metab. 2004. PMID: 15172005

4

Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.

Feldshtein M, Elkrinawi S, Yerushalmi B, Marcus B, Vullo D, Romi H, Ofir R, Landau D, Sivan S, Supuran CT, Birk OS. Feldshtein M, et al. Among authors: yerushalmi b. Am J Hum Genet. 2010 Nov 12;87(5):713-20. doi: 10.1016/j.ajhg.2010.10.008. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035102 Free PMC article.

5

Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.

Feinstein Y, Yerushalmi B, Loewenthal N, Alkrinawi S, Birk OS, Parvari R, Hershkovitz E. Feinstein Y, et al. Among authors: yerushalmi b. Horm Res Paediatr. 2014;81(5):336-42. doi: 10.1159/000358327. Epub 2014 Apr 4. Horm Res Paediatr. 2014. PMID: 24714577 Clinical Trial.

6

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

David O, Eskin-Schwartz M, Ling G, Dolgin V, Kristal E, Benkowitz E, Osyntsov L, Gradstein L, Birk OS, Loewenthal N, Yerushalmi B. David O, et al. Among authors: yerushalmi b. Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. Epub 2020 Aug 3. Clin Genet. 2020. PMID: 32617964

7

Genetic and electrophysiological characteristics of recurrent acute pancreatitis.

Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M. Werlin S, et al. Among authors: yerushalmi b. J Pediatr Gastroenterol Nutr. 2015 May;60(5):675-9. doi: 10.1097/MPG.0000000000000623. J Pediatr Gastroenterol Nutr. 2015. PMID: 25383785

8

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. Pathak SJ, et al. Among authors: yerushalmi b. Hum Mutat. 2019 Feb;40(2):142-161. doi: 10.1002/humu.23688. Epub 2018 Nov 29. Hum Mutat. 2019. PMID: 30461124 Free PMC article.

9

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Broides A, Mandola AB, Levy J, Yerushalmi B, Pinsk V, Eldan M, Shubinsky G, Hadad N, Levy R, Nahum A, Ben-Harosh M, Lev A, Simon A, Somech R. Broides A, et al. Among authors: yerushalmi b. Immunol Res. 2017 Jun;65(3):651-657. doi: 10.1007/s12026-016-8883-x. Immunol Res. 2017. PMID: 28070732

10

Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations.

Broides A, Nahum A, Mandola AB, Rozner L, Pinsk V, Ling G, Yerushalmi B, Levy J, Givon-Lavi N. Broides A, et al. Among authors: yerushalmi b. J Clin Immunol. 2017 Apr;37(3):295-300. doi: 10.1007/s10875-017-0378-6. Epub 2017 Mar 16. J Clin Immunol. 2017. PMID: 28299599

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

89 results

Search Page

Filters