Barbara Oehl-Jaschkowitz

Barbara Oehl-Jaschkowitz

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Barbara Oehl-Jaschkowitz

Barbara Oehl-Jaschkowitz

Publications by authors named "Barbara Oehl-Jaschkowitz"

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Behavioral and psychological features in girls and women with triple-X syndrome.

Am J Med Genet A 2018 11 2;176(11):2284-2291. Epub 2018 Aug 2.

Department of Neurobehavioral Genetics, Trier University, Trier, Germany.

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http://dx.doi.org/10.1002/ajmg.a.40477DOI Listing
November 2018

Dravet syndrome: a new causative SCN1A mutation?

Clin Case Rep 2017 05 18;5(5):613-615. Epub 2017 Mar 18.

Department of Pediatrics and Neonatology Saarland University Hospital Homburg/Saar Germany.

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http://dx.doi.org/10.1002/ccr3.787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412774PMC
May 2017

Congenital CLN disease in two siblings.

Wien Med Wochenschr 2015 May 10;165(9-10):210-3. Epub 2015 Jun 10.

Department of Pediatrics and Neonatology (Neonatal Intensive Care Unit), University Children´s Hospital of Saarland/Saarland University Hospitals, Building 9, 66421, Homburg, Germany,

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http://link.springer.com/content/pdf/10.1007/s10354-015-0359
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http://link.springer.com/10.1007/s10354-015-0359-4
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http://dx.doi.org/10.1007/s10354-015-0359-4DOI Listing
May 2015

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Am J Med Genet A 2011 Nov 19;155A(11):2771-4. Epub 2011 Sep 19.

Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34230DOI Listing
November 2011

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Am J Med Genet A 2008 Sep;146A(17):2304-7

Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.32444
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http://dx.doi.org/10.1002/ajmg.a.32444DOI Listing
September 2008

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Neurogenetics 2007 Nov 29;8(4):279-88. Epub 2007 Sep 29.

Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg 93053, Germany.

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http://dx.doi.org/10.1007/s10048-007-0096-yDOI Listing
November 2007

Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.

Acta Neuropathol 2007 Mar 13;113(3):339-46. Epub 2006 Dec 13.

Institute of Brain Research, Eberhard-Karls University, Medical School, Tuebingen, Germany.

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http://dx.doi.org/10.1007/s00401-006-0179-0DOI Listing
March 2007