Frydman M - Search Results

1

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E. Yonath H, et al. Among authors: frydman m. Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905. Prenat Diagn. 2012. PMID: 22367672

2

The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.

Peleg L, Karpati M, Bronstein S, Berkenstadt M, Frydman M, Yonath H, Pras E. Peleg L, et al. Among authors: frydman m. J Med Screen. 2011;18(4):169-72. doi: 10.1258/jms.2011.011044. Epub 2011 Dec 7. J Med Screen. 2011. PMID: 22156145

3

Screening for fragile X syndrome in women of reproductive age.

Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, Barkai G. Pesso R, et al. Among authors: frydman m. Prenat Diagn. 2000 Aug;20(8):611-4. doi: 10.1002/1097-0223(200008)20:8<611::aid-pd881>3.0.co;2-m. Prenat Diagn. 2000. PMID: 10951469

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. Among authors: frydman m. 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

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.

Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, Baris HN, Shohat M, Frydman M, Pras E. Yonath H, et al. Among authors: frydman m. J Appl Genet. 2011 Nov;52(4):437-41. doi: 10.1007/s13353-011-0052-2. Epub 2011 May 17. J Appl Genet. 2011. PMID: 21584729

6

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. Among authors: frydman m. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5283-7. doi: 10.1167/iovs.06-0206. Invest Ophthalmol Vis Sci. 2006. PMID: 17122114

7

Confirmation of the association between male pattern baldness and the androgen receptor gene.

Levy-Nissenbaum E, Bar-Natan M, Frydman M, Pras E. Levy-Nissenbaum E, et al. Among authors: frydman m. Eur J Dermatol. 2005 Sep-Oct;15(5):339-40. Eur J Dermatol. 2005. PMID: 16172040

8

Noonan syndrome: a cryptic condition in early gestation.

Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M. Achiron R, et al. Among authors: frydman m. Am J Med Genet. 2000 May 29;92(3):159-65. doi: 10.1002/(sici)1096-8628(20000529)92:3<159::aid-ajmg1>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10817648

9

Urorectal septum malformation sequence: prenatal sonographic diagnosis in two sets of discordant twins.

Achiron R, Frydman M, Lipitz S, Zalel Y. Achiron R, et al. Among authors: frydman m. Ultrasound Obstet Gynecol. 2000 Nov;16(6):571-4. doi: 10.1046/j.1469-0705.2000.00233.x. Ultrasound Obstet Gynecol. 2000. PMID: 11169354 Free article.

10

Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J. Bar-Yosef O, et al. Among authors: frydman m. Am J Med Genet A. 2008 Dec 1;146A(23):3054-7. doi: 10.1002/ajmg.a.32541. Am J Med Genet A. 2008. PMID: 18973246

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