Meiner V - Search Results

1

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.

Daum H, Segel R, Meiner V, Goldberg Y, Zeligson S, Weiss O, Stern S, Frumkin A, Zenvirt S, Ganz G, Shkedi-Rafid S. Daum H, et al. Among authors: meiner v. J Med Genet. 2023 Jan;60(1):99-105. doi: 10.1136/jmedgenet-2021-107890. Epub 2022 Mar 9. J Med Genet. 2023. PMID: 35264407

2

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Sheffer R, Bennett-Back O, Yaacov B, Edvardson S, Gomori M, Werner M, Fahham D, Anteby I, Frumkin A, Meiner V, Elpeleg O. Sheffer R, et al. Among authors: meiner v. Neurogenetics. 2015 Jan;16(1):23-6. doi: 10.1007/s10048-014-0428-7. Epub 2014 Oct 22. Neurogenetics. 2015. PMID: 25338135

3

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.

Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S, Cederboim SH, Duvdevani MP, Frumkin A, Zilkha A, Kapuller V, Arbell D, Cohen E, Eventov-Friedman S. Banne E, et al. Among authors: meiner v. JIMD Rep. 2016;26:31-6. doi: 10.1007/8904_2015_474. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238251 Free PMC article.

4

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.

Goldberg Y, Halpern N, Hubert A, Adler SN, Cohen S, Plesser-Duvdevani M, Pappo O, Shaag A, Meiner V. Goldberg Y, et al. Among authors: meiner v. Cancer Genet. 2015 Dec;208(12):621-4. doi: 10.1016/j.cancergen.2015.10.001. Epub 2015 Oct 22. Cancer Genet. 2015. PMID: 26806154

5

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

Harel T, Hacohen N, Shaag A, Gomori M, Singer A, Elpeleg O, Meiner V. Harel T, et al. Among authors: meiner v. Am J Med Genet A. 2017 Sep;173(9):2539-2544. doi: 10.1002/ajmg.a.38347. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686357

6

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.

Daum H, Lerer I, Frumkin A, Rosenak D, Yanai N, Porat S, Yagel S, Meiner V. Daum H, et al. Among authors: meiner v. Prenat Diagn. 2018 Jan;38(2):135-139. doi: 10.1002/pd.5201. Epub 2018 Jan 19. Prenat Diagn. 2018. PMID: 29327352

7

Non-confined long-standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy.

Daum H, Frumkin A, Meiner V, Werner M, Macarov M, Gillis D, Israel S, Abed El Latif M, Meir K, Gielchinsky Y. Daum H, et al. Among authors: meiner v. Int J Gynaecol Obstet. 2020 Mar;148(3):399-400. doi: 10.1002/ijgo.13022. Epub 2019 Nov 26. Int J Gynaecol Obstet. 2020. PMID: 31671208 No abstract available.

8

Grandparental genotyping enhances exome variant interpretation.

Daum H, Mor-Shaked H, Ta-Shma A, Shaag A, Silverstein S, Shohat M, Elpeleg O, Meiner V, Harel T. Daum H, et al. Among authors: meiner v. Am J Med Genet A. 2020 Apr;182(4):689-696. doi: 10.1002/ajmg.a.61511. Epub 2020 Feb 6. Am J Med Genet A. 2020. PMID: 32027463

9

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Daum H, Meiner V, Michaelson-Cohen R, Sukenik-Halevy R, Zalcberg ML, Bar-Ziv A, Weiden AT, Scher SY, Shohat M, Zlotogora J. Daum H, et al. Among authors: meiner v. Eur J Hum Genet. 2020 Jul;28(7):938-942. doi: 10.1038/s41431-020-0577-0. Epub 2020 Feb 13. Eur J Hum Genet. 2020. PMID: 32055014 Free PMC article.

10

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.

Wagner T, Fahham D, Frumkin A, Shaag A, Yagel S, Yanai N, Porat S, Mor-Shaked H, Meiner V, Daum H. Wagner T, et al. Among authors: meiner v. Prenat Diagn. 2022 Jun;42(7):881-889. doi: 10.1002/pd.5977. Epub 2021 Jul 8. Prenat Diagn. 2022. PMID: 34132406

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