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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050.
Eur J Hum Genet. 2003.
PMID: 14571271
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G.
Moog U, et al. Among authors: balg s.
J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27.
J Med Genet. 2011.
PMID: 21954287
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Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
von Gernet S, Schuffenhauer S, Golla A, Lichtner P, Balg S, Mühlbauer W, Murken J, Fairley J, Meitinger T.
von Gernet S, et al. Among authors: balg s.
Am J Med Genet. 1996 May 3;63(1):177-84. doi: 10.1002/(SICI)1096-8628(19960503)63:1<177::AID-AJMG31>3.0.CO;2-J.
Am J Med Genet. 1996.
PMID: 8723106
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A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).
Dufke A, Eggermann K, Balg S, Stengel-Rutkowski S, Enders H, Kaiser P.
Dufke A, et al. Among authors: balg s.
Cytogenet Cell Genet. 2000;91(1-4):85-9. doi: 10.1159/000056824.
Cytogenet Cell Genet. 2000.
PMID: 11173836
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Mulibrey nanism.
Balg S, Stengel-Rutkowski S, Döhlemann C, Boergen K.
Balg S, et al.
Clin Dysmorphol. 1995 Jan;4(1):63-9.
Clin Dysmorphol. 1995.
PMID: 7735507
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[Video technology--a medium for milieu therapy?].
Wormstall H, Günthner A, Balg S, Schwärzler F.
Wormstall H, et al. Among authors: balg s.
Psychiatr Prax. 2000 Jul;27(5):235-8.
Psychiatr Prax. 2000.
PMID: 10941773
German.
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