Carmi R - Search Results

1

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. Carstea ED, et al. Among authors: carmi r. Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228. Science. 1997. PMID: 9211849

2

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: carmi r. Genet Med. 2001 Sep-Oct;3(5):343-8. doi: 10.1097/00125817-200109000-00003. Genet Med. 2001. PMID: 11545687 Free article.

3

Niemann-Pick disease associated with nonimmune hydrops fetalis.

Meizner I, Levy A, Carmi R, Robinsin C. Meizner I, et al. Among authors: carmi r. Am J Obstet Gynecol. 1990 Jul;163(1 Pt 1):128-9. doi: 10.1016/s0002-9378(11)90685-1. Am J Obstet Gynecol. 1990. PMID: 2375336

4

A targeted population carrier screening program for severe and frequent genetic diseases in Israel.

Zlotogora J, Carmi R, Lev B, Shalev SA. Zlotogora J, et al. Among authors: carmi r. Eur J Hum Genet. 2009 May;17(5):591-7. doi: 10.1038/ejhg.2008.241. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107146 Free PMC article.

5

[A comprehensive program for prevention of genetic diseases among Arabs in Israel].

Shalev SA, Carmi R, Leventhal A, Zlotogora J. Shalev SA, et al. Among authors: carmi r. Harefuah. 2003 Nov;142(11):792-4, 804. Harefuah. 2003. PMID: 14631914 Hebrew.

6

Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees.

Glaser B, Phillip M, Carmi R, Lieberman E, Landau H. Glaser B, et al. Among authors: carmi r. Am J Med Genet. 1990 Dec;37(4):511-5. doi: 10.1002/ajmg.1320370416. Am J Med Genet. 1990. PMID: 2260597

7

Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.

Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Chemke J, et al. Among authors: carmi r. Am J Med Genet. 1992 Aug 1;43(6):989-95. doi: 10.1002/ajmg.1320430616. Am J Med Genet. 1992. PMID: 1415350 Review.

8

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

Carmi R, Elbedour K, Stone EM, Sheffield VC. Carmi R, et al. Am J Med Genet. 1995 Nov 6;59(2):199-203. doi: 10.1002/ajmg.1320590216. Am J Med Genet. 1995. PMID: 8588586

9

Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

Leiberman E, Pesler D, Parvari R, Elbedour K, Abdul-Latif H, Brown MR, Parks JS, Carmi R. Leiberman E, et al. Among authors: carmi r. Am J Med Genet. 2000 Jan 31;90(3):188-92. Am J Med Genet. 2000. PMID: 10678654

10

Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations.

Carmi R, Magee CA, Neill CA, Karrer FM. Carmi R, et al. Am J Med Genet. 1993 Mar 15;45(6):683-93. doi: 10.1002/ajmg.1320450606. Am J Med Genet. 1993. PMID: 8456846 Review.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

139 results

Search Page