Verheij, Joke B.G.M.: search on Z-Library

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1

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk, Ronald J. Admiraal, Alex Magee, Ingrid van de Laar, Yvonne Hendriks, Joke B.G.M. Verheij, Ian Walpole, Han G. Brunner, Conny M.A. van R

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 224 KB

english, 2008

2

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

Runhart, Esmee H., Sangermano, Riccardo, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Plomp, Astrid S., Boon, Camiel J. F., Lugtenberg, Dorien, Roosing, Susanne, Bax, Nathalie M., Blokland, Ellen A

Journal:

Investigative Opthalmology & Visual Science

Year:

2018

Language:

english

File:

PDF, 1.31 MB

english, 2018

3

Clomiphene and hypospadias on a detailed level: Signal or chance?

Willemijn M. Meijer, Lolkje T.W. de Jong-Van den Berg, Marjan D. van den Berg, Joke B.G.M. Verheij, Hermien E.K. de Walle

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

4

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

van der Hout, Annemarie H, Oudesluijs, Grétel G, Venema, Andrea, Verheij, Joke B G M, Mol, Bart G J, Rump, Patrick, Brunner, Han G, Vos, Yvonne J, van Essen, Anthonie J

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

5

Technical students' metacognitive skills: relating general vs. specific metacognitive skills to study success

Marcel V.J. Veenman, Joke Verheij

Journal:

Learning and Individual Differences

Year:

2001

Language:

english

File:

PDF, 125 KB

english, 2001

6

Search and study strategies in hypertext

Joke Verheij, Evelien Stoutjesdijk, Jos Beishuizen

Journal:

Computers in Human Behavior

Year:

1996

Language:

english

File:

PDF, 1.13 MB

english, 1996

7

Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

Judith C. Booij, Arne Bakker, Jamilia Kulumbetova, Youssef Moutaoukil, Bert Smeets, Joke Verheij, Hester Y. Kroes, Caroline C.W. Klaver, Mary van Schooneveld, Arthur A.B. Bergen, Ralph J. Florijn

Journal:

Year:

2011

Language:

english

File:

PDF, 1.46 MB

english, 2011

8

Compliance with referrals to medical specialist care: patient and general practice determinants: a cross-sectional study

van Dijk, Christel E., de Jong, Judith D., Verheij, Robert A., Jansen, Tessa, Korevaar, Joke C., de Bakker, Dinny H.

Journal:

BMC Family Practice

Year:

2016

Language:

english

File:

PDF, 444 KB

english, 2016

9

Erratum to “Feasibility of automatic evaluation of clinical rules in general practice” [Int. J. Med. Inform. (2017) 90–94]

Opondo, Dedan, Visscher, Stefan, Eslami, Saied, Medlock, Stephanie, Verheij, Robert, Korevaar, Joke C., Abu-Hanna, Ameen

Journal:

International Journal of Medical Informatics

Year:

2017

Language:

english

File:

PDF, 129 KB

english, 2017

10

Learning styles: Self-reports versus thinking-aloud measures

Dr Marcel V. J. Veenman, Frans J. Prins, Joke Verheij

Journal:

British Journal of Educational Psychology

Year:

2003

Language:

english

File:

PDF, 246 KB

english, 2003

11

Feasibility of automatic evaluation of clinical rules in general practice

Opondo, Dedan, Visscher, Stefan, Eslami, Saied, Medlock, Stephanie, Verheij, Robert, Korevaar, Joke C., -->-->Abu-Hanna, Ameen

Journal:

International Journal of Medical Informatics

Year:

2017

Language:

english

File:

PDF, 472 KB

english, 2017

12

Inappropriateness of Medication Prescriptions to Elderly Patients in the Primary Care Setting: A Systematic Review

Opondo, Dedan, Eslami, Saied, Visscher, Stefan, de Rooij, Sophia E., Verheij, Robert, Korevaar, Joke C., Abu-Hanna, Ameen, Simpson, Colin

Journal:

Year:

2012

Language:

english

File:

PDF, 341 KB

english, 2012

13

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Bonaglia, Maria Clara, Ciccone, Roberto, Gimelli, Giorgio, Gimelli, Stefania, Marelli, Susan, Verheij, Joke, Giorda, Roberto, Grasso, Rita, Borgatti, Renato, Pagone, Filomena

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 217 KB

english, 2008

14

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

van der Werf, Christine S., Halim, Danny, Verheij, Joke B.G.M., Alves, Maria M., Hofstra, Robert M.W.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2015

Language:

english

File:

PDF, 952 KB

english, 2015

15

Costs, Effects, and Savings of Screening for Cystic Fibrosis Gene Carriers

Mark F. Wildhagen, Henk B. M. Hilderink, Jan Gerben Verzijl, Joke B. G. M. Verheij, Loes Kooij, Tjeerd Tijmstra, Leo P. ten Kate and J. Dik F. Habbema

Journal:

Journal of Epidemiology & Community Health

Year:

1998

Language:

english

File:

PDF, 1.92 MB

english, 1998

16

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

Joke B.G.M. Verheij, Jürgen Kunze, Jan Osinga, Anthonie J. van Essen, Robert M.W. Hofstra

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 106 KB

english, 2002

17

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

van der Werf, Christine S., Sribudiani, Yunia, Verheij, Joke B.G.M., Carroll, Matthew, O’Loughlin, Edward, Chen, Chien-Huan, Brooks, Alice S., Liszewski, M. Kathryn, Atkinson, John P., Hofstra, Robert

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 271 KB

english, 2013

18

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22

Verheij, Joke B.G.M., Bouman, Katel�ne, van Lingen, Richard A., van Lookeren Campagne, Joannes G., Leegte, Beike, van der Veen, Anneke Y., Hofstra, Robert M.W., Buys, Charles H.C.M., van Essen, Anthon

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.32 MB

english, 1999

19

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

Verheij, Coleta, Bakker, Cathy E., de Graaff, Esther, Keulemans, Joke, Willemsen, Rob, Verkerk, Annemieke J. M. H., Galjaard, Hans, Reuser, Arnold J. J., Hoogeveen, André T., Oostra, Ben A.

Journal:

Year:

1993

File:

PDF, 372 KB

1993

20

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Ro

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 220 KB

english, 2012

21

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

van Silfhout, Anneke T, van den Akker, Peter C, Dijkhuizen, Trijnie, Verheij, Joke B G M, Olderode-Berends, Maran J W, Kok, Klaas, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 355 KB

english, 2009

22

Cohort profile: LIFEWORK, a prospective cohort study on occupational and environmental risk factors and health in the Netherlands

Reedijk, Marije, Lenters, Virissa, Slottje, Pauline, Pijpe, Anouk, Peeters, Petra H, Korevaar, Joke C, Bueno-de-Mesquita, Bas, Verschuren, W M Monique, Verheij, Robert A, Pieterson, Inka, van Leeuwen,

Journal:

Year:

2018

Language:

english

File:

PDF, 1.55 MB

english, 2018

23

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds

Wasmann, Rosemarie A., Wassink-Ruiter, Jolien S. Klein, Sundin, Olof H., Morales, Elisa, Verheij, Joke B. G. M., Pott, Jan Willem R.

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2014

Language:

english

File:

PDF, 655 KB

english, 2014

24

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F.

Journal:

Proceedings of the National Academy of Sciences

Year:

2017

Language:

english

File:

PDF, 1.86 MB

english, 2017

25

Mutations in SCG10 Are Not Involved in Hirschsprung Disease

Alves, Maria M. M., Osinga, Jan, Verheij, Joke B. G. M., Metzger, Marco, Eggen, Bart J. L., Hofstra, Robert M. W., Aziz, Syed A.

Journal:

Year:

2010

Language:

english

File:

PDF, 101 KB

english, 2010

26

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions

Trijnie Dijkhuizen, Ton van Essen, Pieter van der Vlies, Joke B.G.M. Verheij, Birgit Sikkema-Raddatz, Anneke Y. van der Veen, Klasien B.J. Gerssen-Schoorl, Charles H.C.M. Buys, Klaas Kok

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

27

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2

Burzynski, Grzegorz M, Nolte, Ilja M, Osinga, Jan, Ceccherini, Isabella, Twigt, Bas, Maas, Saskia, Brooks, Alice, Verheij, Joke, Menacho, Ivan Plaza, Buys, Charles HCM

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 159 KB

english, 2004

28

Quality of Co-Prescribing NSAID and Gastroprotective Medications for Elders in The Netherlands and Its Association with the Electronic Medical Record

Opondo, Dedan, Visscher, Stefan, Eslami, Saeid, Verheij, Robert A., Korevaar, Joke C., Abu-Hanna, Ameen, Marengoni, Alessandra

Journal:

Year:

2015

Language:

english

File:

PDF, 513 KB

english, 2015

29

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

Frederik Hes, Richard Zewald, Ton Peeters, Rolf Sijmons, Thera Links, Joke Verheij, Gert Matthijs, Eric Legius, Geert Mortier, Kors van der Torren, Malou Rosman, Cornelis Lips, Peter Pearson, Rob van

Journal:

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

30

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke BGM, Perez-Aytes, Antonio, Van Esch, Hil

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 1.09 MB

english, 2013

31

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

32

Serotonergic, Catecholaminergic, and Cardiovascular Reactions to Mental Stress in Female Migraine Patients. A Controlled Study

Dirk L. Stronks, Joke H. M. Tulen, René Verheij, Frans Boomsma, Durk Fekkes, Lolke Pepplinkhuizen, Geert W. H. Mantel, Jan Passchier

Journal:

Headache: The Journal of Head and Face Pain

Year:

1998

Language:

english

File:

PDF, 1.66 MB

english, 1998

33

Management of acute cough: Comparisons between Belgian and Dutch GPs

Coenen, Samuel, Welschen, Ineke, Royen, Paul Van, Kuyvenhoven, Marijke M, Denekens, Joke, Verheij, Theo JM

Journal:

European Journal of General Practice

Year:

2004

Language:

english

File:

PDF, 861 KB

english, 2004

34

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Grzegorz M. Burzynski, Ilja M. Nolte, Agnes Bronda, Krista K. Bos, Jan Osinga, Ivan Plaza Menacho, Bas Twigt, Saskia Maas, Alice S. Brooks, B.G.M. Joke Verheij, H.C.M. Charles Buys, M.W. Robert Hofstr

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.03 MB

english, 2005

35

The clinical spectrum of complete FBN1 allele deletions

Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 358 KB

english, 2010

36

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

Feenstra, Ilse, Hanemaaijer, Nicolien, Sikkema-Raddatz, Birgit, Yntema, Helger, Dijkhuizen, Trijnie, Lugtenberg, Dorien, Verheij, Joke, Green, Andrew, Hordijk, Roel, Reardon, William, Vries, Bert de,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 366 KB

english, 2011

37

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Halim, Danny, Hofstra, Robert M.W., Signorile, Luca, Verdijk, Rob M., van der Werf, Christine S., Sribudiani, Yunia, Brouwer, Rutger W. W., van IJcken, Wilfred F.J., Dahl, Niklas, Verheij, Joke B.G.M.

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.06 MB

english, 2016

38

A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

Littink, Karin W., Pott, Jan-Willem R., Collin, Rob W. J., Kroes, Hester Y., Verheij, Joke B. G. M., Blokland, Ellen A. W., de Castro Miró, Marta, Hoyng, Carel B., Klaver, Caroline C. W., Koenekoop, R

Journal:

Investigative Ophthalmology & Visual Science

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

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