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Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
Am J Med Genet. 2000 Jan 31;90(3):239-42.
Am J Med Genet. 2000.
PMID: 10678662
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
Kölble N, Sobetzko D, Ersch J, Stallmach T, Eich G, Huch R, Huch A, Superti-Furga A, Wisser J.
Kölble N, et al. Among authors: sobetzko d.
Ultrasound Obstet Gynecol. 2002 Jan;19(1):92-8. doi: 10.1046/j.0960-7692.2001.00496.x.
Ultrasound Obstet Gynecol. 2002.
PMID: 11851976
Free article.
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Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Sobetzko D, Braga S, Rüdeberg A, Superti-Furga A.
Sobetzko D, et al.
J Med Genet. 2000 Dec;37(12):958-9. doi: 10.1136/jmg.37.12.958.
J Med Genet. 2000.
PMID: 11186940
Free PMC article.
No abstract available.
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[Early-onset generalized polyarthritis (Stickler syndrome)].
Mach J, Sobetzko D, Superti-Furga A, Stoll T.
Mach J, et al. Among authors: sobetzko d.
Praxis (Bern 1994). 2002 Feb 27;91(9):361-6. doi: 10.1024/0369-8394.91.9.361.
Praxis (Bern 1994). 2002.
PMID: 11902100
German.
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Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
Sobetzko D, Sander T, Becker CM.
Sobetzko D, et al.
Am J Med Genet. 2001 Aug 8;105(6):534-8. doi: 10.1002/ajmg.1488.
Am J Med Genet. 2001.
PMID: 11496371
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Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
Saul B, Kuner T, Sobetzko D, Brune W, Hanefeld F, Meinck HM, Becker CM.
Saul B, et al. Among authors: sobetzko d.
J Neurosci. 1999 Feb 1;19(3):869-77. doi: 10.1523/JNEUROSCI.19-03-00869.1999.
J Neurosci. 1999.
PMID: 9920650
Free PMC article.
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Insulin-dependent diabetes mellitus induced by the antitussive agent dextromethorphan.
Konrad D, Sobetzko D, Schmitt B, Schoenle EJ.
Konrad D, et al. Among authors: sobetzko d.
Diabetologia. 2000 Feb;43(2):261-2. doi: 10.1007/s001250050042.
Diabetologia. 2000.
PMID: 10753054
No abstract available.
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