Publications by authors named "Jutta Becker"

18Publications

Discrepancy in redetermination of copy numbers in children with SMA.

Neurology 2019 Aug 24;93(6):267-269. Epub 2019 Jun 24.

From the Department of Neuropediatrics and Muscle Disorders (D.C.S., A.P., T.L., J.K.), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg; and the Institute of Human Genetics (J.B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics, and Center for Rare Diseases Cologne, University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000007836DOI Listing
August 2019

Correction to: Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III.

Pediatr Nephrol 2018 07;33(7):1275-1276

Division of Pediatric Nephrology, Department of Pediatrics, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.

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http://dx.doi.org/10.1007/s00467-018-3944-0DOI Listing
July 2018

Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.

Pediatr Nephrol 2017 Dec 15;32(12):2263-2271. Epub 2017 Jul 15.

Division of Pediatric Nephrology, Department of Pediatrics, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.

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http://dx.doi.org/10.1007/s00467-017-3731-3DOI Listing
December 2017

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Am J Med Genet A 2017 03 30;173(3):806-808. Epub 2016 Nov 30.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38065DOI Listing
March 2017

Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.

Front Aging Neurosci 2015 13;7:187. Epub 2015 Oct 13.

Center for Neuropsychological Diagnostics and Intervention (CeNDI), Institute of Gerontology, University of Vechta Vechta, Germany ; Department of Medical Psychology, University Hospital Cologne Cologne, Germany.

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http://dx.doi.org/10.3389/fnagi.2015.00187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602086PMC
November 2015

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Hum Mol Genet 2014 Aug 4;23(16):4396-405. Epub 2014 Apr 4.

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany

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http://hmg.oxfordjournals.org/content/23/16/4396.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu156
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http://dx.doi.org/10.1093/hmg/ddu156DOI Listing
August 2014

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

Eur J Med Genet 2011 Sep-Oct;54(5):e495-500. Epub 2011 Jun 21.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.06.002DOI Listing
December 2011