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Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.
Epilepsy Res. 2007 Apr;74(1):28-32. doi: 10.1016/j.eplepsyres.2006.12.001. Epub 2007 Jan 9.
Epilepsy Res. 2007.
PMID: 17215107
A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.
Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A.
Maljevic S, et al. Among authors: cobilanschi j.
Ann Neurol. 2006 Jun;59(6):983-7. doi: 10.1002/ana.20874.
Ann Neurol. 2006.
PMID: 16718694
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Association analysis between the human interleukin 1beta (-511) gene polymorphism and susceptibility to febrile convulsions.
Tilgen N, Pfeiffer H, Cobilanschi J, Rau B, Horvath S, Elger CE, Propping P, Heils A.
Tilgen N, et al. Among authors: cobilanschi j.
Neurosci Lett. 2002 Dec 6;334(1):68-70. doi: 10.1016/s0304-3940(02)01069-8.
Neurosci Lett. 2002.
PMID: 12431777
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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F, Engel W.
Trappe R, et al. Among authors: cobilanschi j.
Am J Hum Genet. 2001 May;68(5):1093-101. doi: 10.1086/320109. Epub 2001 Apr 17.
Am J Hum Genet. 2001.
PMID: 11309679
Free PMC article.
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The clinical significance of small copy number variants in neurodevelopmental disorders.
Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A.
Asadollahi R, et al. Among authors: cobilanschi j.
J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.
J Med Genet. 2014.
PMID: 25106414
Free PMC article.
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[Genetic diagnostics of cancer diseases].
Cobilanschi J.
Cobilanschi J.
Praxis (Bern 1994). 2013 Nov 27;102(24):1475-82. doi: 10.1024/1661-8157/a001489.
Praxis (Bern 1994). 2013.
PMID: 24280604
Review.
German.
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Human seminal fluid contains significant quantities of prorenin: its correlation with the sperm density.
Mukhopadhyay AK, Cobilanschi J, Schulze W, Brunswig-Spickenheier B, Leidenberger FA.
Mukhopadhyay AK, et al. Among authors: cobilanschi j.
Mol Cell Endocrinol. 1995 Apr 1;109(2):219-24. doi: 10.1016/0303-7207(95)03505-2.
Mol Cell Endocrinol. 1995.
PMID: 7664985
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Relevance of the tissue prorenin-renin-angiotensin system to male reproductive physiology.
Mukhopadhyay AK, Cobilanschi J, Brunswig-Spickenheier B, Leidenberger FA.
Mukhopadhyay AK, et al. Among authors: cobilanschi j.
Adv Exp Med Biol. 1995;377:269-77. doi: 10.1007/978-1-4899-0952-7_16.
Adv Exp Med Biol. 1995.
PMID: 7484428
Review.
No abstract available.
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