Adir V - Search Results

1

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D. Hady-Cohen R, et al. Among authors: adir v. Eur J Paediatr Neurol. 2018 Nov;22(6):1133-1138. doi: 10.1016/j.ejpn.2018.07.003. Epub 2018 Jul 26. Eur J Paediatr Neurol. 2018. PMID: 30100179

2

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.

Sagi-Dain L, Shemer L, Zelnik N, Zoabi Y, Orit S, Adir V, Schif A, Peleg A. Sagi-Dain L, et al. Among authors: adir v. J Peripher Nerv Syst. 2018 Jun;23(2):138-142. doi: 10.1111/jns.12264. Epub 2018 May 9. J Peripher Nerv Syst. 2018. PMID: 29582526

3

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Peleg A, Kurolap A, Sagi-Dain L, Larom-Khan G, Adir V, Mory A, Paperna T, Shuldiner AR, Gonzaga-Jauregui C, Adir N, Baris Feldman H, Wollstein R. Peleg A, et al. Among authors: adir v. Clin Dysmorphol. 2021 Apr 1;30(2):71-75. doi: 10.1097/MCD.0000000000000342. Clin Dysmorphol. 2021. PMID: 32925198

4

SMPD1 mutations and Parkinson disease.

Dagan E, Adir V, Schlesinger I, Borochowitz Z, Ayoub M, Mory A, Nassar M, Kurolap A, Aharon-Peretz J, Gershoni-Baruch R. Dagan E, et al. Among authors: adir v. Parkinsonism Relat Disord. 2015 Oct;21(10):1296-7. doi: 10.1016/j.parkreldis.2015.08.019. Epub 2015 Aug 20. Parkinsonism Relat Disord. 2015. PMID: 26318962 No abstract available.

5

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Reish O, Borochowitz ZU, Adir V, Shohat M, Karpati M, Shtorch A, Orr-Urtreger A, Yaron Y, Shalev S, Fares F, Gershoni-Baruch R, Falik-Zaccai TC, Chapman-Shimshoni D. Reish O, et al. Among authors: adir v. Genet Med. 2009 Feb;11(2):101-3. doi: 10.1097/GIM.0b013e31818efd59. Genet Med. 2009. PMID: 19265749 Free article.

6

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.

Dagan E, Cohen Y, Mory A, Adir V, Borochowitz Z, Raanani H, Kurolap A, Melikhan-Revzin S, Meirow D, Gershoni-Baruch R. Dagan E, et al. Among authors: adir v. Eur J Hum Genet. 2014 Feb;22(2):277-9. doi: 10.1038/ejhg.2013.281. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281364 Free PMC article.

7

Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome.

Adir V, Shahak E, Dar H, Borochowitz ZU. Adir V, et al. Genet Test. 2003 Winter;7(4):345-6. doi: 10.1089/109065703322783734. Genet Test. 2003. PMID: 15000814

8

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata A, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU. Shalata A, et al. Among authors: adir v. Muscle Nerve. 2010 Apr;41(4):464-9. doi: 10.1002/mus.21525. Muscle Nerve. 2010. PMID: 19697366

9

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.

Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V. Borochowitz ZU, et al. Among authors: adir v. J Med Genet. 2004 May;41(5):366-72. doi: 10.1136/jmg.2003.013342. J Med Genet. 2004. PMID: 15121775 Free PMC article. No abstract available.

10

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update.

Reish O, Shohat M, Magal N, Pesso R, Borochowitz ZU, Adir V, Karpati M, Shimshoni DC. Reish O, et al. Among authors: adir v. Genet Med. 2009 May;11(5):372. doi: 10.1097/GIM.0b013e3181a02f04. Genet Med. 2009. PMID: 19346956 Free article. No abstract available.

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

11 results

Search Page

Filters