Langer Y - Search Results

1

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.

Volodarsky M, Langer Y, Birk OS. Volodarsky M, et al. Among authors: langer y. BMC Med Genet. 2014 Sep 30;15:110. doi: 10.1186/s12881-014-0110-9. BMC Med Genet. 2014. PMID: 25267529 Free PMC article.

2

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. Zolotushko J, et al. Among authors: langer y. Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11. Eur J Hum Genet. 2011. PMID: 21559050 Free PMC article.

3

A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y, Birk OS. Volodarsky M, et al. Among authors: langer y. Hum Mutat. 2013 Apr;34(4):582-6. doi: 10.1002/humu.22274. Hum Mutat. 2013. PMID: 23316006

4

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Among authors: langer y. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.

5

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS. Perez Y, et al. Among authors: langer y. Eur J Hum Genet. 2014 May;22(5):703-6. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045842 Free PMC article.

6

Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.

Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J. Baraghithy S, et al. Among authors: langer y. J Bone Miner Res. 2019 Jan;34(1):93-105. doi: 10.1002/jbmr.3591. Epub 2018 Oct 22. J Bone Miner Res. 2019. PMID: 30347474 Free article.

7

Questionnaire-based study showed that neonatal chest radiographs could be reliably interpreted using the WhatsApp messaging application.

Gross I, Langer Y, Pasternak Y, Abu Ahmad W, Eventov-Friedman S, Koplewitz BZ. Gross I, et al. Among authors: langer y. Acta Paediatr. 2019 Jan;108(1):94-100. doi: 10.1111/apa.14444. Epub 2018 Jun 29. Acta Paediatr. 2019. PMID: 29889988

8

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.

9

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Fine D, Flusser H, Markus B, Shorer Z, Gradstein L, Khateeb S, Langer Y, Narkis G, Birk R, Galil A, Shelef I, Birk OS. Fine D, et al. Among authors: langer y. Eur J Hum Genet. 2015 Dec;23(12):1729-34. doi: 10.1038/ejhg.2014.241. Epub 2014 Nov 12. Eur J Hum Genet. 2015. PMID: 25388005 Free PMC article.

10

Severely resorbed mandible treated with iliac crest autogenous bone graft and dental implants: 17-year follow-up.

Moses O, Nemcovsky CE, Langer Y, Tal H. Moses O, et al. Among authors: langer y. Int J Oral Maxillofac Implants. 2007 Nov-Dec;22(6):1017-21. Int J Oral Maxillofac Implants. 2007. PMID: 18271386

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