Adir V[au] - Search Results

Year	Number of Results
1994	1
2003	1
2004	1
2009	2
2010	1
2013	1
2014	1
2015	1
2018	2
2021	1
2024	0

1

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.

2

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

3

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

4

LAP (NF-IL6) transactivates the collagen alpha 1(I) gene from a 5' regulatory region.

Houglum K, Buck M, Adir V, Chojkier M. Houglum K, et al. Among authors: adir v. J Clin Invest. 1994 Aug;94(2):808-14. doi: 10.1172/JCI117400. J Clin Invest. 1994. PMID: 8040336 Free PMC article.

5

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

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

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.

10

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.

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