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163 results

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Page 1
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: straussberg r. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
Infantile bilateral striatal necrosis maps to chromosome 19q.
Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M. Basel-Vanagaite L, et al. Among authors: straussberg r. Neurology. 2004 Jan 13;62(1):87-90. doi: 10.1212/01.wnl.0000101680.49036.69. Neurology. 2004. PMID: 14718703
Familial cognitive impairment with ataxia with oculomotor apraxia.
Mahajnah M, Basel-Vanagaite L, Inbar D, Kornreich L, Weitz R, Straussberg R. Mahajnah M, et al. Among authors: straussberg r. J Child Neurol. 2005 Jun;20(6):523-5. doi: 10.1177/088307380502000610. J Child Neurol. 2005. PMID: 15996403
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: straussberg r. J Med Genet. 2006 Mar;43(3):203-10. doi: 10.1136/jmg.2005.035709. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033914 Free PMC article.
Thiamine deficiency in infants: MR findings in the brain.
Kornreich L, Bron-Harlev E, Hoffmann C, Schwarz M, Konen O, Schoenfeld T, Straussberg R, Nahum E, Ibrahim AK, Eshel G, Horev G. Kornreich L, et al. Among authors: straussberg r. AJNR Am J Neuroradiol. 2005 Aug;26(7):1668-74. AJNR Am J Neuroradiol. 2005. PMID: 16091511 Free PMC article.
Expanding the phenotypic spectrum of L1CAM-associated disease.
Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE. Basel-Vanagaite L, et al. Among authors: straussberg r. Clin Genet. 2006 May;69(5):414-9. doi: 10.1111/j.1399-0004.2006.00607.x. Clin Genet. 2006. PMID: 16650080
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: straussberg r. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902. Ann Neurol. 2006. PMID: 16786527
163 results