Klar A - Search Results

1

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

Meiner V, Shpitzen S, Mandel H, Klar A, Ben-Neriah Z, Zlotogora J, Sagi M, Lossos A, Bargal R, Sury V, Carmi R, Leitersdorf E, Zeigler M. Meiner V, et al. Among authors: klar a. Genet Med. 2001 Sep-Oct;3(5):343-8. doi: 10.1097/00125817-200109000-00003. Genet Med. 2001. PMID: 11545687 Free article.

2

Two novel mutations identified in familial cases with Donohue syndrome.

Falik Zaccai TC, Kalfon L, Klar A, Elisha MB, Hurvitz H, Weingarten G, Chechik E, Fleisher Sheffer V, Haj Yahya R, Meidan G, Gross-Kieselstein E, Bauman D, Hershkovitz S, Yaron Y, Orr-Urtreger A, Wertheimer E. Falik Zaccai TC, et al. Among authors: klar a. Mol Genet Genomic Med. 2014 Jan;2(1):64-72. doi: 10.1002/mgg3.43. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24498630 Free PMC article.

3

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Anikster Y, et al. Among authors: klar a. Am J Hum Genet. 2002 Aug;71(2):407-14. doi: 10.1086/341606. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058346 Free PMC article.

4

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Hiba O, Branski D, Corey M, Kerem B. Kerem E, et al. Among authors: klar a. Pediatrics. 1997 Sep;100(3):E5. doi: 10.1542/peds.100.3.e5. Pediatrics. 1997. PMID: 9271620

5

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.

Gillis R, Klar A, Gross-Kieselstein E. Gillis R, et al. Among authors: klar a. Clin Genet. 1990 Nov;38(5):378-81. doi: 10.1111/j.1399-0004.1990.tb03599.x. Clin Genet. 1990. PMID: 2282718

6

Hepatitis A associated with other focal infections.

Klar A, Gross-Kieselstein E, Shazberg G, Israeli T, Revel-Vilk S, Hurvitz H. Klar A, et al. Isr Med Assoc J. 2000 Aug;2(8):598-600. Isr Med Assoc J. 2000. PMID: 10979353 Free article.

7

Nasal potential difference measurements in patients with atypical cystic fibrosis.

Wilschanski M, Famini H, Strauss-Liviatan N, Rivlin J, Blau H, Bibi H, Bentur L, Yahav Y, Springer H, Kramer MR, Klar A, Ilani A, Kerem B, Kerem E. Wilschanski M, et al. Among authors: klar a. Eur Respir J. 2001 Jun;17(6):1208-15. doi: 10.1183/09031936.01.00092501. Eur Respir J. 2001. PMID: 11491166 Free article.

8

Muscular carnitine palmitoyltransferase II deficiency in infancy.

Hurvitz H, Klar A, Korn-Lubetzki I, Wanders RJ, Elpeleg ON. Hurvitz H, et al. Among authors: klar a. Pediatr Neurol. 2000 Feb;22(2):148-50. doi: 10.1016/s0887-8994(99)00125-3. Pediatr Neurol. 2000. PMID: 10738923

9

Plasmin-mediated release of the guidance molecule F-spondin from the extracellular matrix.

Tzarfaty-Majar V, López-Alemany R, Feinstein Y, Gombau L, Goldshmidt O, Soriano E, Muñoz-Cánoves P, Klar A. Tzarfaty-Majar V, et al. Among authors: klar a. J Biol Chem. 2001 Jul 27;276(30):28233-41. doi: 10.1074/jbc.M102585200. Epub 2001 May 18. J Biol Chem. 2001. PMID: 11359777 Free article.

10

Investigation of unexplained infant deaths in Jerusalem, Israel 1996-2003.

Eisenstein EM, Haklai Z, Schwartz S, Klar A, Stein N, Kerem E. Eisenstein EM, et al. Among authors: klar a. Arch Dis Child. 2007 Aug;92(8):697-9. doi: 10.1136/adc.2006.107425. Epub 2006 Oct 30. Arch Dis Child. 2007. PMID: 17074788 Free PMC article.

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

300 results

Search Page

Filters