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1

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bo

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.34 MB

english, 2008

2

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanne G.M. Frints, Guy Froyen, Jean-Pierre F

Journal:

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

3

Loss ofSLC38A5andFTSJ1at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

Guy Froyen, Marijke Bauters, Jackie Boyle, Hilde Van Esch, Karen Govaerts, Hans van Bokhoven, Hans-Hilger Ropers, Claude Moraine, Jamel Chelly, Jean-Pierre Fryns, Peter Marynen, Jozef Gecz, Gillian Tu

Journal:

Year:

2007

Language:

english

File:

PDF, 652 KB

english, 2007

4

A novel mutation in theDLG3gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

Ginevra Zanni, Hilde van Esch, Anissa Bensalem, Yoann Saillour, Karine Poirier, Laetitia Castelnau, Hans Hilger Ropers, Arjan P. M. de Brouwer, Fréderic Laumonnier, Jean-Pierre Fryns, Jamel Chelly

Journal:

Year:

2010

Language:

english

File:

PDF, 218 KB

english, 2010

5

Use of physicochemical calculation of pKa and CLogP to predict phospholipidosis-inducing potential: A case study with structurally related piperazines

Jan-Peter H.T.M. Ploemen, Jan Kelder, Theo Hafmans, Han van de Sandt, Johan A. van Burgsteden, Paul J.M. Salemink, Eric van Esch

Journal:

Experimental and Toxicologic Pathology

Year:

2004

Language:

english

File:

PDF, 284 KB

english, 2004

6

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH

Ludmila Kousoulidou, Sven Parkel, Olga Zilina, Priit Palta, Helen Puusepp, Maido Remm, Gillian Turner, Jackie Boyle, Hans van Bokhoven, Arjan de Brouwer, Hilde Van Esch, Guy Froyen, Hans-Hilger Ropers

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 379 KB

english, 2007

7

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, Kirsten Hoffmann, Bettina Moser, Martine Raynaud, Jürgen Sperner, Jean-Pierre Fryns, Eberhard Schwinger, Jozef Gécz, Hans-Hilger Ropers, Vera M. Kalscheu

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.42 MB

english, 2004

8

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns, Ben C.J. Hamel, Erik A. S

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 400 KB

english, 2006

9

A central role for TFIID in the pluripotent transcription circuitry

Pijnappel, W. W. M. Pim, Esch, Daniel, Baltissen, Marijke P. A., Wu, Guangming, Mischerikow, Nikolai, Bergsma, Atze J., van der Wal, Erik, Han, Dong Wook, Bruch, Hermann vom, Moritz, Sören, Lijnzaad,

Journal:

Year:

2013

Language:

english

File:

PDF, 608 KB

english, 2013

10

Antibody effector mechanisms in myasthenia gravis—Pathogenesis at the neuromuscular junction

Gomez, Alejandro M., Van Den Broeck, Joost, Vrolix, Kathleen, Janssen, Sofie P., Lemmens, Marijke A. M., Van Der Esch, Eline, Duimel, Hans, Frederik, Peter, Molenaar, Peter C., Martínez-Martínez, Pila

Journal:

Year:

2010

Language:

english

File:

PDF, 853 KB

english, 2010

11

MOF@MOF core–shell vs. Janus particles and the effect of strain: potential for guest sorption, separation and sequestration

Szilágyi, Petra Ágota, Lutz, Martin, Gascon, Jorge, Juan-Alcañiz, Jana, van Esch, Jan, Kapteijn, Freek, Geerlings, Hans, Dam, Bernard, van de Krol, Roel

Journal:

Year:

2013

Language:

english

File:

PDF, 648 KB

english, 2013

12

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 538 KB

english, 2009

13

Sensitizing capacity and allergenicity of enzymatically cross-linked sodium caseinate in comparison to sodium caseinate in a mouse model for cow's milk allergy

van Esch, Betty C.A.M., Gros-van Hest, Marjan, Westerbeek, Hans, Garssen, Johan

Journal:

Toxicology Letters

Year:

2013

Language:

english

File:

PDF, 566 KB

english, 2013

14

Bioenergy Alongside Other Land Use: Sustainability Assessment of Alternative Bioenergy Development Scenarios

Langeveld, Johannes (Hans) WA, Quist-Wessel, PM Foluke, van Esch, Jan WJ, Berndes, Göran

Journal:

International Journal of Forest Engineering

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

15

[ASME ASME Turbo Expo 2000: Power for Land, Sea, and Air - Munich, Germany (Monday 8 May 2000)] Volume 4: Manufacturing Materials and Metallurgy; Ceramics; Structures and Dynamics; Controls, Diagnostics and Instrumentation; Education - Cyclic Oxidation of a NiCoCrAlY Coating Applied by HVOF and LPPS

Bernstein, Henry L., Greaves, Wayne L., van Esch, Hans, Talley, Peggy L.

Year:

2000

Language:

english

File:

PDF, 495 KB

english, 2000

16

‘We halen gewoon het beste uit onszelf’

van de Pas, Jeroen, Prins, Greet, van Esch, Han

Journal:

Year:

2016

Language:

dutch

File:

PDF, 932 KB

dutch, 2016

17

Effect of soft braces on pain and physical function in patients with knee osteoarthritis: systematic review with meta-analyses

Cudejko, Tomasz, van der Esch, Martin, van der Leeden, Marike, Roorda, Leo D., Pallari, Jari, Bennell, Kim L., Lund, Hans, Dekker, Joost

Journal:

Archives of Physical Medicine and Rehabilitation

Year:

2017

Language:

english

File:

PDF, 2.62 MB

english, 2017

18

[ASME ASME Turbo Expo 2000: Power for Land, Sea, and Air - Munich, Germany (Monday 8 May 2000)] Volume 4: Manufacturing Materials and Metallurgy; Ceramics; Structures and Dynamics; Controls, Diagnostics and Instrumentation; Education - High Temperature Brazing for Cobalt-Based Gas Turbine Components

Greaves, Wayne, van Esch, Hans

Year:

2000

Language:

english

File:

PDF, 959 KB

english, 2000

19

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

Piard, Juliette, Hu, Jia-Hua, Campeau, Philippe M, Rzońca, Sylwia, Van Esch, Hilde, Vincent, Elizabeth, Han, Mei, Rossignol, Elsa, Castaneda, Jennifer, Chelly, Jamel, Skinner, Cindy, Kalscheuer, Vera

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 682 KB

english, 2017

20

[ASME ASME 1998 International Gas Turbine and Aeroengine Congress and Exhibition - Stockholm, Sweden (Tuesday 2 June 1998)] Volume 5: Manufacturing Materials and Metallurgy; Ceramics; Structures and Dynamics; Controls, Diagnostics and Instrumentation; Education - Manual GTAW of Superalloy Blade Materials Using High Strength Fillers

Greaves, Wayne, van Esch, Hans

Year:

1998

Language:

english

File:

PDF, 606 KB

english, 1998

21

[ASME ASME 1996 International Gas Turbine and Aeroengine Congress and Exhibition - Birmingham, UK (Monday 10 June 1996)] Volume 5: Manufacturing Materials and Metallurgy; Ceramics; Structures and Dynamics; Controls, Diagnostics and Instrumentation; Education; General - A Comparison of HVOF and LPPS Applied MCrAlY Coating

van Esch, Hans, Greaves, Wayne

Year:

1996

Language:

english

File:

PDF, 124 KB

english, 1996

22

[ASME ASME Turbo Expo 2018: Turbomachinery Technical Conference and Exposition - Oslo, Norway (Monday 11 June 2018)] Volume 6: Ceramics; Controls, Diagnostics, and Instrumentation; Education; Manufacturing Materials and Metallurgy - Mechanical Properties in GTD-111 Alloy in Heavy Frame Gas Turbines

Scheibel, John R., Aluru, Rajeev, van Esch, Hans

Year:

2018

Language:

english

File:

PDF, 1.70 MB

english, 2018

23

Mild Hypogammaglobulinemia Can Be a Serious Condition

Janssen, Lisanne M. A., Bassett, Paul, Macken, Thomas, van Esch, Jolanda, Pruijt, Hans, Knoops, Arnoud, Sköld, Markus, Parker, Antony, de Vries, Jolanda, de Vries, Esther

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 1.93 MB

english, 2018

24

[ASME ASME 1997 International Gas Turbine and Aeroengine Congress and Exhibition - Orlando, Florida, USA (Monday 2 June 1997)] Volume 4: Manufacturing Materials and Metallurgy; Ceramics; Structures and Dynamics; Controls, Diagnostics and Instrumentation; Education; IGTI Scholar Award - High Temperature Braze Repair for Compressor Blades

van Esch, Hans, Herren, Ernst

Year:

1997

File:

PDF, 212 KB

1997

25

Pre-existing inflammatory immune microenvironment predicts the clinical response of vulvar high-grade squamous intraepithelial lesions to therapeutic HPV16 vaccination

Abdulrahman, Ziena, de Miranda, Noel, van Esch, Edith M G, de Vos van Steenwijk, Peggy J, Nijman, Hans W, J. P. Welters, Marij, van Poelgeest, Mariette I E, van der Burg, Sjoerd H

Journal:

Journal for ImmunoTherapy of Cancer

Year:

2020

File:

PDF, 7.63 MB

2020