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Page 1
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A. Papuc SM, et al. Among authors: baldinger r. Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552426 Free PMC article.
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: baldinger r. 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.
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: baldinger r. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
Oneda B, Asadollahi R, Azzarello-Burri S, Niedrist D, Baldinger R, Masood R, Schinzel A, Latal B, Jenni OG, Rauch A. Oneda B, et al. Among authors: baldinger r. Mol Syndromol. 2017 Aug;8(5):266-271. doi: 10.1159/000477189. Epub 2017 Jun 13. Mol Syndromol. 2017. PMID: 28878611 Free PMC article.
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Oneda B, Sirleto P, Baldinger R, Taralczak M, Joset P, Zweier M, Niedrist D, Azzarello-Burri S, Britschgi C, Breymann C, Ochsenbein-Kölble N, Burkhardt T, Wisser J, Zimmermann R, Steindl K, Rauch A. Oneda B, et al. Among authors: baldinger r. Eur J Obstet Gynecol Reprod Biol. 2020 Sep;252:19-29. doi: 10.1016/j.ejogrb.2020.05.070. Epub 2020 Jun 2. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32619881
Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.
Oneda B, Steindl K, Masood R, Reshetnikova I, Krejci P, Baldinger R, Reissmann R, Taralczak M, Guetg A, Wisser J, Fauchère JC, Rauch A. Oneda B, et al. Among authors: baldinger r. Eur J Obstet Gynecol Reprod Biol. 2016 May;200:72-5. doi: 10.1016/j.ejogrb.2016.02.042. Epub 2016 Mar 8. Eur J Obstet Gynecol Reprod Biol. 2016. PMID: 26989803
Pre- and postnatal findings in trisomy 17 mosaicism.
Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: baldinger r. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327
Assessment of the reliability of the motor unit size index (MUSIX) in single subject "round-robin" and multi-centre settings.
Alix JJP, Neuwirth C, Gelder L, Burkhardt C, Castro J, de Carvalho M, Gawel M, Goedee S, Grosskreutz J, Lenglet T, Moglia C, Omer T, Schrooten M, Nandedkar S, Stalberg E, Barkhaus PE, Furtula J, van Dijk JP, Baldinger R, Costa J, Otto M, Sandberg A, Weber M. Alix JJP, et al. Among authors: baldinger r. Clin Neurophysiol. 2019 May;130(5):666-674. doi: 10.1016/j.clinph.2019.01.020. Epub 2019 Feb 21. Clin Neurophysiol. 2019. PMID: 30870802
20 results