Deborah J Morris-Rosendahl

Deborah J Morris-Rosendahl

UNVERIFIED PROFILE

Are you Deborah J Morris-Rosendahl?   Register this Author

Register author
Deborah J Morris-Rosendahl

Deborah J Morris-Rosendahl

Publications by authors named "Deborah J Morris-Rosendahl"

Are you Deborah J Morris-Rosendahl?   Register this Author

38Publications

1152Reads

43Profile Views

Whole Gene Sequencing of Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis.

Am J Respir Crit Care Med 2020 Feb 4. Epub 2020 Feb 4.

Imperial College London - Royal Brompton Campus, 152930, London, United Kingdom of Great Britain and Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1164/rccm.201908-1541LEDOI Listing
February 2020

The role of genetics and genomics in clinical psychiatry.

Dialogues Clin Neurosci 2018 09;20(3):169-177

Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, London, UK, NHLI, Imperial College London, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296395PMC
September 2018

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

Clin Immunol 2016 Mar 23;164:52-6. Epub 2016 Jan 23.

Center of Chronic Immunodeficiency, University Medical Center Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15216616163001
Publisher Site
http://dx.doi.org/10.1016/j.clim.2016.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101191PMC
March 2016

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

Kidney Int 2015 Nov 1;88(5):1070-8. Epub 2015 Jul 1.

Department of Physiology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ki.2015.181DOI Listing
November 2015

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

Mol Cell Probes 2015 Oct 4;29(5):271-81. Epub 2015 Jun 4.

Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany; Institute of Cell Biology and Neurobiology, Charité University Medicine, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mcp.2015.05.015DOI Listing
October 2015

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.

Neuromuscul Disord 2014 Apr 28;24(4):321-4. Epub 2014 Jan 28.

Division of Neuropaediatrics, University of Basel Children's Hospital, Switzerland; Department of Neurology, University of Basel Hospital, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.01.009DOI Listing
April 2014

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).

BMC Pediatr 2014 Jan 17;14:13. Epub 2014 Jan 17.

Department of Pediatrics, Albert-Ludwigs-University of Freiburg, Mathildenstrasse 1, D 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2431-14-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898379PMC
January 2014

Microdeletion 5q14.3 and anomalies of brain development.

Am J Med Genet A 2013 Sep 4;161A(9):2124-33. Epub 2013 Jul 4.

Institute of Human Genetics, Albert-Ludwigs University Medical Centre Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36020DOI Listing
September 2013

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

J Child Neurol 2012 Dec 8;27(12):1534-40. Epub 2012 Mar 8.

Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073811436326DOI Listing
December 2012

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Hum Genet 2011 Jan 22;129(1):45-50. Epub 2010 Oct 22.

Institute of Human Genetics, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-010-0896-2DOI Listing
January 2011

A glossary of relevant genetic terms.

Dialogues Clin Neurosci 2010 ;12(1):116-20

Institute for Human Genetics, University Clinic Freiburg, Germany.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181945PMC
April 2010

Filamin A mutation is one cause of FG syndrome.

Am J Med Genet A 2007 Aug;143A(16):1876-9

Institute for Human Genetics, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31751DOI Listing
August 2007

Prenatal diagnosis of muscle-eye-brain disease.

Prenat Diagn 2007 Jan;27(1):51-4

Hacettepe University, Faculty of Medicine, Department of Medical Biology, Sihhiye, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1622DOI Listing
January 2007

A novel non-neuronal hSK3 isoform with a dominant-negative effect on hSK3 currents.

Cell Physiol Biochem 2004 ;14(1-2):23-30

Department for Applied Physiology, University-Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000076923DOI Listing
October 2004

An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel.

Mol Pharmacol 2004 Mar;65(3):788-801

Department of Applied Physiology, University of Ulm, Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1124/mol.65.3.788DOI Listing
March 2004

The future of genetic testing for drug response.

Dialogues Clin Neurosci 2004 Mar;6(1):27-37

Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181785PMC
March 2004

Are there anxious genes?

Dialogues Clin Neurosci 2002 Sep;4(3):251-60

Institute for Human Genetics and Anthropology, Albert Ludwigs University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181683PMC
September 2002

Are there anxious genes?

Dialogues Clin Neurosci 2002 Sep;4(3):251-60

Institute for Human Genetics and Anthropology, Albert Ludwigs University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181683PMC
September 2002

The human genome: chromosome 22q11 deletion syndrome.

Am J Psychiatry 2002 Apr;159(4):527

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1176/appi.ajp.159.4.527DOI Listing
April 2002