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Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Halperin D, Drabkin M, Wormser O, Yogev Y, Dolgin V, Shorer Z, Gradstein L, Shelef I, Flusser H, Birk OS. Halperin D, et al. Among authors: birk os. Am J Med Genet A. 2020 Jun;182(6):1506-1512. doi: 10.1002/ajmg.a.61577. Epub 2020 Mar 31. Am J Med Genet A. 2020. PMID: 32232962
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.
Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS. Harel T, et al. Eur J Hum Genet. 2004 Jan;12(1):38-43. doi: 10.1038/sj.ejhg.5201087. Eur J Hum Genet. 2004. PMID: 14523375
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
Bar-Yosef U, Ohana E, Hershkovitz E, Perlmuter S, Ofir R, Birk OS. Bar-Yosef U, et al. Am J Med Genet A. 2004 Feb 15;125A(1):45-8. doi: 10.1002/ajmg.a.20435. Am J Med Genet A. 2004. PMID: 14755465
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS. Landau D, et al. Mol Genet Metab. 2004 Jun;82(2):167-72. doi: 10.1016/j.ymgme.2004.03.005. Mol Genet Metab. 2004. PMID: 15172005
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.
Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. Harel T, et al. Am J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Am J Med Genet A. 2005. PMID: 15558753
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