Reznik-Wolf H - Search Results

1

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: reznik wolf h. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319

2

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

Abu A, Frydman M, Marek D, Pras E, Stolovitch C, Aviram-Goldring A, Rienstein S, Reznik-Wolf H, Pras E. Abu A, et al. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5283-7. doi: 10.1167/iovs.06-0206. Invest Ophthalmol Vis Sci. 2006. PMID: 17122114

3

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Lotan D, Yoskovitz G, Bisceglia L, Gerad L, Reznik-Wolf H, Pras E. Lotan D, et al. Isr Med Assoc J. 2007 Jul;9(7):513-6. Isr Med Assoc J. 2007. PMID: 17710781 Free article.

4

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E. Abu A, et al. Am J Hum Genet. 2008 May;82(5):1217-22. doi: 10.1016/j.ajhg.2008.04.001. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18452888 Free PMC article.

5

Clinical disease among patients heterozygous for familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, Pras M, Pras E. Marek-Yagel D, et al. Arthritis Rheum. 2009 Jun;60(6):1862-6. doi: 10.1002/art.24570. Arthritis Rheum. 2009. PMID: 19479871 Free article.

6

Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.

Appel SA, Chapman J, Kahana E, Rosenmann H, Prohovnik I, Pras E, Reznik-Wolf H, Cohen OS. Appel SA, et al. Eur J Neurol. 2010 Jun 1;17(6):861-5. doi: 10.1111/j.1468-1331.2010.02948.x. Epub 2010 Jan 20. Eur J Neurol. 2010. PMID: 20113338 Free PMC article.

7

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E. Marek-Yagel D, et al. Arthritis Care Res (Hoboken). 2010 Sep;62(9):1294-8. doi: 10.1002/acr.20213. Arthritis Care Res (Hoboken). 2010. PMID: 20506103 Free article.

8

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317

9

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. Heimer G, et al. Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22. Eur J Paediatr Neurol. 2016. PMID: 26542466

10

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M, Khermesh K, Barak M, Lin M, Lahat H, Reznik Wolf H, Lin M, Pras E, Levanon EY. Gal M, et al. BMC Med Genomics. 2016 May 13;9(1):24. doi: 10.1186/s12920-016-0184-7. BMC Med Genomics. 2016. PMID: 27175728 Free PMC article.

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