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Unilateral Multifocal Inner Ear and Internal Auditory Canal or Cerebellopontine Angle Cochleovestibular Schwannomas-Genetic Analysis and Management by Surgical Resection and Cochlear Implantation.
Otol Neurotol. 2024 Jun 1;45(5):580-586. doi: 10.1097/MAO.0000000000004163. Epub 2024 Mar 4.
Otol Neurotol. 2024.
PMID: 38437842
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel JB, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K.
Baasanjav S, et al.
Am J Hum Genet. 2011 Jul 15;89(1):15-27. doi: 10.1016/j.ajhg.2011.05.021.
Am J Hum Genet. 2011.
PMID: 21763480
Free PMC article.
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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K.
Clayton P, et al. Among authors: baasanjav s.
Nucleus. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21.
Nucleus. 2010.
PMID: 21327084
Free PMC article.
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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E.
Graul-Neumann LM, et al. Among authors: baasanjav s.
Am J Med Genet A. 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690.
Am J Med Genet A. 2010.
PMID: 20979188
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Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S.
Baasanjav S, et al.
BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.
BMC Med Genet. 2010.
PMID: 20618940
Free PMC article.
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