Karin Dahan

Karin Dahan

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Karin Dahan

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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

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney Int Rep 2018 May 2;3(3):652-660. Epub 2018 Feb 2.

Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ekir.2018.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976824PMC
May 2018

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018

De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.

Case Rep Nephrol 2018 14;2018:1727986. Epub 2018 Mar 14.

Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1155/2018/1727986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5872611PMC
March 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Nephrol Dial Transplant 2017 May;32(5):830-837

Division of Nephrology, Cliniques universitaires Saint-Luc, Brussels, Belgium.

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http://dx.doi.org/10.1093/ndt/gfw271DOI Listing
May 2017

Early-onset of ADCK4 glomerulopathy with renal failure: a case report.

BMC Med Genet 2017 Mar 16;18(1):28. Epub 2017 Mar 16.

Department of Pediatric Nephrology, Hôpital Universitaire des Enfants-Reine Fabiola, Université Libre de Bruxelles (ULB), Avenue JJ Crocq 15, 1020, Brussels, Belgium.

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http://dx.doi.org/10.1186/s12881-017-0392-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5353777PMC
March 2017

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Hum Mutat 2015 Aug 11;36(8):743-52. Epub 2015 Jun 11.

Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1002/humu.22804DOI Listing
August 2015

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Nephrol Dial Transplant 2015 Jun 11;30(6):952-7. Epub 2015 Mar 11.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfv014DOI Listing
June 2015

Paradoxical response to furosemide in uromodulin-associated kidney disease.

Nephrol Dial Transplant 2015 Feb 23;30(2):330-5. Epub 2014 Dec 23.

Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium Institute of Physiology, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1093/ndt/gfu389DOI Listing
February 2015

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

J Am Soc Nephrol 2014 Dec 22;25(12):2740-51. Epub 2014 May 22.

Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France;

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http://dx.doi.org/10.1681/ASN.2013080912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243343PMC
December 2014

A 'silent', new polymorphism of factor H and apparent de novo atypical haemolytic uraemic syndrome after kidney transplantation.

BMJ Case Rep 2014 Dec 23;2014. Epub 2014 Dec 23.

Département de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.

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http://dx.doi.org/10.1136/bcr-2014-207630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275717PMC
December 2014

Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction?

Nephrol Dial Transplant 2014 Sep;29 Suppl 4:iv117-20

Division of Nephrology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium Institute of Physiology, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1093/ndt/gfu075DOI Listing
September 2014

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Hum Mutat 2014 Feb 9;35(2):178-86. Epub 2013 Dec 9.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades, Paris, France; Inserm U983, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1002/humu.22485DOI Listing
February 2014

Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression.

Clin Epigenetics 2012 Jun 15;4(1). Epub 2012 Jun 15.

Center for Human Genetics, Université Catholique de Louvain, Cliniques universitaires Saint-Luc, Avenue Hippocrate 10, Brussels, B-1200, Belgium.

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http://dx.doi.org/10.1186/1868-7083-4-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470942PMC
June 2012

Distinctive patterns of p53 protein expression and microsatellite instability in human colorectal cancer.

Hum Pathol 2011 Dec 12;42(12):1897-910. Epub 2011 Jun 12.

Center for Human Genetics, School of Medicine, Université Catholique de Louvain, Cliniques universitaires Saint-Luc, B-1200 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.humpath.2010.06.021DOI Listing
December 2011

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Clin J Am Soc Nephrol 2011 Oct 25;6(10):2429-38. Epub 2011 Aug 25.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.2215/CJN.01220211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359549PMC
October 2011

Association of PKD2 (polycystin 2) mutations with left-right laterality defects.

Am J Kidney Dis 2011 Sep 29;58(3):456-60. Epub 2011 Jun 29.

Centre de Néphrologie et Transplantation Rénale, Hôpital La Conception, Marseille, France.

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http://linkinghub.elsevier.com/retrieve/pii/S027263861100915
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http://dx.doi.org/10.1053/j.ajkd.2011.05.015DOI Listing
September 2011

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).

Acta Gastroenterol Belg 2011 Sep;74(3):421-6

Belgian Polyposis Project, Familial Adenomatous Polyposis Association (FAPA), Brussels.

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September 2011

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

Hum Genet 2011 Jan 26;129(1):51-8. Epub 2010 Oct 26.

Academic Endocrine Unit, Oxford Centre for Diabetes Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Headington, Oxford, OX3 7LJ, UK.

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http://link.springer.com/10.1007/s00439-010-0897-1
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http://dx.doi.org/10.1007/s00439-010-0897-1DOI Listing
January 2011

A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.

Nephrol Dial Transplant 2010 Dec 26;25(12):4097-102. Epub 2010 Aug 26.

Division of Nephrology, Cliniques Universitaires St. Luc, Université catholique de Louvain, Bruxelles, Belgium.

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http://dx.doi.org/10.1093/ndt/gfq519DOI Listing
December 2010

High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.

Fam Cancer 2010 Sep;9(3):383-7

Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.

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http://link.springer.com/10.1007/s10689-010-9321-1
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http://dx.doi.org/10.1007/s10689-010-9321-1DOI Listing
September 2010

Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations.

Nephrol Dial Transplant 2010 Sep 21;25(9):2837-9. Epub 2010 Jul 21.

Department of Pediatrics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1093/ndt/gfq434DOI Listing
September 2010

Multiple neoplasia in a 15-year-old girl with familial adenomatous polyposis.

J Pediatr Hematol Oncol 2009 Jul;31(7):530-2

Departments of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1097/MPH.0b013e3181984f91DOI Listing
July 2009

Leg ulcers: a new symptom of Blau syndrome?

Eur J Dermatol 2008 Nov-Dec;18(6):635-7. Epub 2008 Oct 27.

Department of Dermatology, University Hospital of Ghent, De Pintelaan 185, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1684/ejd.2008.0510DOI Listing
March 2009

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.

Nephrol Dial Transplant 2008 Oct 9;23(10):3120-5. Epub 2008 May 9.

Division of Nephrology, Université catholique de Louvain, 10 Avenue Hippocrate, Brussels B-1200, Belgium.

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http://dx.doi.org/10.1093/ndt/gfn229DOI Listing
October 2008

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

J Am Soc Nephrol 2007 Apr 28;18(4):1271-83. Epub 2007 Feb 28.

Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium.

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http://dx.doi.org/10.1681/ASN.2006101095DOI Listing
April 2007

Blau syndrome associated with a CARD15/NOD2 mutation.

Am J Ophthalmol 2006 Dec 2;142(6):1089-92. Epub 2006 Aug 2.

Department of Ophthalmology, Saint-Luc University Hospital, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ajo.2006.06.064DOI Listing
December 2006

A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.

Am J Kidney Dis 2006 Nov;48(5):e73-9

Department of Pediatrics, Division of Nephrology, Center for Human Genetics, Université catholique de Louvain Medical School, Saint-Luc Academic Hospital, Brussels, Belgium.

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http://dx.doi.org/10.1053/j.ajkd.2006.08.005DOI Listing
November 2006

Tamm-Horsfall protein or uromodulin: new ideas about an old molecule.

Nephrol Dial Transplant 2005 Jul 19;20(7):1290-4. Epub 2005 Apr 19.

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http://dx.doi.org/10.1093/ndt/gfh851DOI Listing
July 2005

[From Alport syndrome to benign familial hematuria: clinical and genetic aspect].

Nephrol Ther 2005 May 1;1(2):90-100. Epub 2005 Jun 1.

Service de Néphrologie et Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 10, Avenue Hippocrate, 1200 Bruxelles, Belgique.

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http://dx.doi.org/10.1016/j.nephro.2005.03.005DOI Listing
May 2005

Polymicrogyria in chromosome 22q11 deletion syndrome.

Eur J Paediatr Neurol 2002 ;6(1):73-7

Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1053/ejpn.2001.0544DOI Listing
August 2002

Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

J Pediatr Hematol Oncol 2002 Jan;24(1):69-71

Department of Pediatric Hematology and Oncology, Cliniques Universitaires St. Luc, Brussels, Belgium.

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http://dx.doi.org/10.1097/00043426-200201000-00018DOI Listing
January 2002