Marielle Alders

Marielle Alders

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Marielle Alders

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Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD Rep 2019 23;45:65-69. Epub 2018 Oct 23.

Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/8904_2018_138
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http://dx.doi.org/10.1007/8904_2018_138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675PMC
October 2018

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.

Anatol J Cardiol 2018 Jul;20(1):65-68

Research Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in Rabat; Rabat-Morocco.

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http://www.anakarder.com/jvi.aspx?pdir=anatoljcardiol&pl
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http://dx.doi.org/10.14744/AnatolJCardiol.2018.69639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237802PMC
July 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

J Clin Endocrinol Metab 2018 02;103(2):415-428

Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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https://academic.oup.com/jcem/article/103/2/415/4642964
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http://dx.doi.org/10.1210/jc.2017-01660DOI Listing
February 2018

Variants in KAT6A and pituitary anomalies.

Am J Med Genet A 2017 09 21;173(9):2562-2565. Epub 2017 Jun 21.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38330DOI Listing
September 2017

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical Mutation.

Front Pediatr 2017 27;5:37. Epub 2017 Feb 27.

Department of Pediatric Hematology, Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, Netherlands; Department of Clinical Genetics, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fped.2017.00037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326763PMC
February 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Mutations in TBL1X Are Associated With Central Hypothyroidism.

J Clin Endocrinol Metab 2016 12 7;101(12):4564-4573. Epub 2016 Sep 7.

Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2016-2531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155687PMC
December 2016

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Circulation 2016 Sep 26;134(12):872-82. Epub 2016 Aug 26.

From AMC Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W., C.R.B.) and Department of Clinical Genetics (N.H., M.A.), Academic Medical Center, Amsterdam, The Netherlands; Cardiology Division of the Department of Medicine (A.J.M., C.L., W.Z., I.G., J.L.R., M.L.A., S.M., B.P.), the Department of Biostatistics (D.R.P.), and the Department of Pathology (M.Q.), University of Rochester School of Medicine and Dentistry, Rochester, NY; Heart and Vascular Research Center, MetroHealth Campus of Case Western Reserve University, Cleveland, OH (E.S.K.); Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan (W.S.); Department of Cardiology Bikur Cholim Hospital, Jerusalem, Israel (J.B.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH (J.A.T.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (C.P. L.C., P.J.S.); Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark (J.K.K.); Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.); Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine (W.S.) and Department of Preventive Cardiology (Y.M.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Molecular Medicine, University of Pavia, Italy (L.C.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.A.M.W.); and Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., P.J.S.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.021823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5030177PMC
September 2016

A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.

J Hepatol 2016 Apr 30;64(4):974-7. Epub 2015 Nov 30.

Department of Pediatric Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2015.11.027DOI Listing
April 2016

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 2016

Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.

J Child Neurol 2015 Oct 11;30(11):1515-9. Epub 2015 Mar 11.

Sleepcenter of Stichting Epilepsie Instellingen Nederland (SEIN), Zwolle, Netherlands.

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http://journals.sagepub.com/doi/10.1177/0883073815573317
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http://dx.doi.org/10.1177/0883073815573317DOI Listing
October 2015

Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up.

Heart Rhythm 2014 Oct 29;11(10):1728-32. Epub 2014 May 29.

Heart Center, Department of Cardiology; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1016/j.hrthm.2014.05.028DOI Listing
October 2014

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Hum Genet 2014 Sep 7;133(9):1161-7. Epub 2014 Jun 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1007/s00439-014-1456-yDOI Listing
September 2014

Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome.

Circ Res 2014 Aug 24;115(4):460-9. Epub 2014 Jun 24.

From the Center for Clinical and Translational Science (N.J.B.) and Mayo Graduate School (N.J.B.), Department Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (D.Y., D.J.T., J.R.G., M.J.A.), Department of Medicine (J.R.G.), Division of Cardiovascular Diseases (M.J.A.), and Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, MN; Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, MO (E.K.J., W.W., J.M.N.); Department of Molecular Medicine, University of Pavia, Pavia, Italy (L.C.); Center for Cardiac Arrhythmias of Genetic Origin, IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., F.D., M.T., P.J.S.); Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany (L.C.); and Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands (Y.M., M.A., A.A.M.W.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.303657DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907370PMC
August 2014

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

J Am Coll Cardiol 2014 Jan 25;63(3):259-66. Epub 2013 Sep 25.

Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2013.07.091DOI Listing
January 2014

Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.

Clin Immunol 2013 Oct 19;149(1):25-31. Epub 2013 Jun 19.

Department of Experimental Immunology, Academic Medical Center (AMC), Amsterdam, The Netherlands; Emma Children's Hospital, AMC, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2013.06.002DOI Listing
October 2013

Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience.

Circulation 2013 Oct 20;128(14):1513-21. Epub 2013 Aug 20.

Department of Clinical Genetics (N.H., M.A., S.d.H., M.M.A.M.M., M.P.L., R.H.L.d.D., I.v.L.), Department of Cardiology (H.L.T., A.A.M.W.), and Department of Epidemiology, Biostatistics, and Bioinformatics (I.K.), Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.112.000091DOI Listing
October 2013

A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.

J Pediatr Genet 2013 Jun;2(2):91-6

Department of Pediatrics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.

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http://dx.doi.org/10.3233/PGE-13053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020964PMC
June 2013

Intellectual disability and hemizygous GPD2 mutation.

Am J Med Genet A 2013 May 29;161A(5):1044-50. Epub 2013 Mar 29.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35873DOI Listing
May 2013

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.

Am J Med Genet A 2013 Jan 14;161A(1):102-7. Epub 2012 Dec 14.

Department of Nuclear Medicine, University of Amsterdam, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.35687
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http://dx.doi.org/10.1002/ajmg.a.35687DOI Listing
January 2013

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Circ Cardiovasc Genet 2012 Oct 4;5(5):519-28. Epub 2012 Sep 4.

Department of Medicine/Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.112.963785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3705705PMC
October 2012

KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

Pediatr Blood Cancer 2012 Sep;59(3):565-6

Department of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/pbc.23398DOI Listing
September 2012

PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

Am J Med Genet A 2012 Jul 24;158A(7):1719-23. Epub 2012 May 24.

Department of Pediatric Oncology, Emma Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35406DOI Listing
July 2012

Mortality of inherited arrhythmia syndromes: insight into their natural history.

Circ Cardiovasc Genet 2012 Apr 28;5(2):183-9. Epub 2012 Feb 28.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCGENETICS.111.961102DOI Listing
April 2012

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.

Eur J Med Genet 2012 Mar 28;55(3):191-5. Epub 2012 Jan 28.

Department of Plastic-, Reconstructive and Hand Surgery, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.009DOI Listing
March 2012

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.

Mol Cytogenet 2012 Jan 27;5(1). Epub 2012 Jan 27.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1755-8166-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293093PMC
January 2012

[Premature sudden death--consider serious familial heart rhythm disturbances].

Ned Tijdschr Geneeskd 2011 ;155(39):A3391

Academisch Medisch Centrum, Afd. Cardiologie, Hartfaal Centrum, Amsterdam, the Netherlands.

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December 2011

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.

Am J Med Genet A 2011 Oct 9;155A(10):2578-83. Epub 2011 Sep 9.

Division of Pediatric Cardiology, University of Utah, Salt Lake City, USA.

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http://dx.doi.org/10.1002/ajmg.a.34223DOI Listing
October 2011

Sodium channelopathies: do we really understand what's going on?

J Cardiovasc Electrophysiol 2011 May 31;22(5):590-3. Epub 2010 Aug 31.

Department of Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1540-8167.2010.01892.xDOI Listing
May 2011

Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.

Heart Rhythm 2010 Oct 31;7(10):1383-9. Epub 2010 May 31.

Heart Failure Research Center, Department of Cardiology, Academic Medical Center, University of Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15475271100056
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http://dx.doi.org/10.1016/j.hrthm.2010.05.036DOI Listing
October 2010

Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?

J Am Coll Cardiol 2010 Jun;55(23):2570-6

Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.jacc.2009.12.063DOI Listing
June 2010

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Circulation 2009 Nov 19;120(18):1752-60. Epub 2009 Oct 19.

Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.109.863076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025752PMC
November 2009

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.

Prog Biophys Mol Biol 2008 Oct-Nov;98(2-3):319-27. Epub 2008 Nov 5.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.pbiomolbio.2008.10.004DOI Listing
May 2009

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

Eur J Hum Genet 2009 Apr 15;17(4):467-73. Epub 2008 Oct 15.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://www.nature.com/articles/ejhg2008197
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http://dx.doi.org/10.1038/ejhg.2008.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986208PMC
April 2009

Topotecan distribution in an anephric infant with therapy-resistant bilateral Wilms tumor with a novel germline WT1 gene mutation.

Cancer Chemother Pharmacol 2008 Nov 14;62(6):1039-44. Epub 2008 Feb 14.

Department of Pediatric Hematology/Oncology, Erasmus MC-Sophia Children's Hospital, Room Sp2568, P. O. Box 2060, 3000 CB Rotterdam, The Netherlands.

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http://link.springer.com/10.1007/s00280-008-0694-x
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http://dx.doi.org/10.1007/s00280-008-0694-xDOI Listing
November 2008

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

Heart Rhythm 2007 Jun 2;4(6):752-5. Epub 2007 Mar 2.

Center for Heart Failure Research, Experimental and Molecular Cardiology Group, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2007.02.021DOI Listing
June 2007

Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

Heart Rhythm 2006 Jan;3(1):52-5

Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2005.10.014DOI Listing
January 2006

Chromosomal region 11p15 is associated with male factor subfertility.

Mol Hum Reprod 2003 Oct;9(10):587-92

Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/molehr/gag081DOI Listing
October 2003

A locus for hereditary capillary malformations mapped on chromosome 5q.

Hum Genet 2002 Apr 2;110(4):343-7. Epub 2002 Mar 2.

Department of Plastic, Reconstructive, and Hand Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-002-0700-zDOI Listing
April 2002

Gender differences in the long QT syndrome: effects of beta-adrenoceptor blockade.

Cardiovasc Res 2002 Feb;53(3):770-6

Department of Cardiology, University Medical Center, Utrecht, The Netherlands

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http://dx.doi.org/10.1016/s0008-6363(01)00477-1DOI Listing
February 2002