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1

Technological Mediation and Power: Postphenomenology, Critical Theory, and Autonomist Marxism

Bantwal Rao, Mithun, Jongerden, Joost, Lemmens, Pieter, Ruivenkamp, Guido

Journal:

Philosophy & Technology

Year:

2015

Language:

english

File:

PDF, 460 KB

english, 2015

2

Globalization vs. localization: global food challenges and local solutions

Quaye Wilhelmina, Jongerden Joost, Essegbey George, Ruivenkamp Guido

Journal:

International Journal of Consumer Studies

Year:

2010

Language:

english

File:

PDF, 324 KB

english, 2010

3

Marginalized community, space of commons and autonomy: The case of the Deccan Development Society in South India

Patnaik, Archana, Ruivenkamp, Guido, Jongerden, Ir. Joost

Journal:

Journal of Rural Studies

Year:

2017

Language:

english

File:

PDF, 336 KB

english, 2017

4

A State of the Art of Self Help Groups in India

Singh, Shweta, Ruivenkamp, Guido, Jongerden, Joost

Journal:

Journal of Human Ecology

Year:

2011

Language:

english

File:

PDF, 173 KB

english, 2011

5

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kev

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 386 KB

english, 2012

6

Analysis of missense variants in thePKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)

Monique Losekoot, Cathleen Haarloo, Claudia Ruivenkamp, Stefan J. White, Martijn H. Breuning, Dorien J. M. Peters

Journal:

Year:

2005

Language:

english

File:

PDF, 2.39 MB

english, 2005

7

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Schoumans, Jacqueline, Nordgren, Ann, Ruivenkamp, Claudia, Brøndum-Nielsen, Karen, Teh, Bin Tean, Annéren, Göran, Holmberg, Eva, Nordenskjöld, Magnus, Anderlid, Britt-Marie

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

8

Understanding the concept of food sovereignty using the Ghana School Feeding Programme (GSFP)

Quaye, Wilhelmina, Essegbey, George, Frempong, Godfred, Ruivenkamp, Guido

Journal:

International Review of Sociology

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

9

Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers

Ruivenkamp, Claudia A.L., van Wezel, Tom, Zanon, Carlo, Stassen, Alphons P.M., Vlcek, Cestmir, Csikós, Tamás, Klous, Anita M., Tripodis, Nikos, Perrakis, Anastassis, Boerrigter, Lucie

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 197 KB

english, 2002

10

Understanding the emergence of a hybrid knowledge production discourse: The case of the Generation Challenge Programme (GCP) drought tolerant rice research in India

Basu, Soutrik, Jongerden, Joost, Ruivenkamp, Guido

Journal:

NJAS - Wageningen Journal of Life Sciences

Year:

2018

Language:

english

File:

PDF, 329 KB

english, 2018

11

Consumers' trust in government institutions and their perception and concern about safety and healthiness of fast food

Omari, Rose, Ruivenkamp, Guido T. P., Tetteh, Emmanuel K.

Journal:

Journal of Trust Research

Year:

2017

Language:

english

File:

PDF, 1.43 MB

english, 2017

12

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Wit, J.M., van Duyvenvoorde, H.A., Scheltinga, S.A., de Bruin, S., Hafkenscheid, L., Kant, S.G., Ruivenkamp, C.A.L., Gijsbers, A.C.J., van Doorn, J., Feigerlova, E., Noordam, C., Walenkamp, M.J., Claa

Journal:

Hormone Research in Paediatrics

Year:

2012

Language:

english

File:

PDF, 811 KB

english, 2012

13

IGF1, IGF1R and SHOX Mutation Analysis in Short Children Born Small for Gestational Age and Short Children with Normal Birth Size (Idiopathic Short Stature)

Caliebe, Janina, Broekman, Sander, Boogaard, Merel, Bosch, Cathy A.J., Ruivenkamp, Claudia A.L., Oostdijk, Wilma, Kant, S.G., Binder, Gerhard, Ranke, Michael B., Wit, Jan M., Losekoot, Monique

Journal:

Hormone Research in Paediatrics

Year:

2012

Language:

english

File:

PDF, 197 KB

english, 2012

14

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 167 KB

english, 2009

15

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Dauwerse, Johannes G, Dixon, Jill

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 491 KB

english, 2010

16

Do-it-yourself biology: Action research within the life sciences?

Golinelli, S., Ruivenkamp, G.

Journal:

Action Research

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

17

Repossession through sharing of and access to seeds: different cases and practices

Patnaik, Archana, Jongerden, Joost, Ruivenkamp, Guido

Journal:

International Review of Sociology

Year:

2016

Language:

english

File:

PDF, 1.74 MB

english, 2016

18

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Si

Journal:

Year:

2018

Language:

english

File:

PDF, 2.62 MB

english, 2018

19

Re-skilling the Social Practices: Open Source and Life–Towards a Commons-Based Peer Production in Agro-biotechnology?

Nicolosi, Guido, Ruivenkamp, Guido

Journal:

Science and Engineering Ethics

Year:

2013

Language:

english

File:

PDF, 206 KB

english, 2013

20

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

Gijsbers, A.C.J., Schoumans, J., Ruivenkamp, C.A.L.

Journal:

Cytogenetic and Genome Research

Year:

2011

Language:

english

File:

PDF, 189 KB

english, 2011

21

The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

Dogrusöz, Mehmet, Bagger, Mette, van Duinen, Sjoerd G., Kroes, Wilma G., Ruivenkamp, Claudia A. L., Böhringer, Stefan, Andersen, Klaus Kaae, Luyten, Gregorius P. M., Kiilgaard, Jens F., Jager, Martine

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

File:

PDF, 937 KB

2017

22

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda

Journal:

Year:

2017

Language:

english

File:

PDF, 339 KB

english, 2017

23

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Fokkema, Ivo F.A.C., Velde, K. Joeri, Slofstra, Mariska K., Ruivenkamp, Claudia A.L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin

Journal:

Year:

2019

Language:

english

File:

PDF, 314 KB

english, 2019

24

A new gene associated with a beta-thalassemia phenotype: the observation of variants in SUPT5H

Achour, Ahlem, Koopmann, Tamara T., Castel, Rob, Santen, Gijs W.E., Hollander, den, Nicolette, Knijnenburg, Jeroen, Ruivenkamp, Claudia A.L., Arkesteijn, Sandra G.J., Huurne, ter, Jeanet, Bisoen, Shar

Journal:

Year:

2020

File:

PDF, 1011 KB

2020

25

A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

Juan Manuel Rosa-Rosa, Guillermo Pita, Anna González-Neira, Roger L. Milne, Victoria Fernandez, Claudia Ruivenkamp, Christi J. van Asperen, Peter Devilee, Javier Benitez

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 409 KB

english, 2009

26

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

Zhang, Zhong-Fa, Ruivenkamp, Claudia, Staaf, Johan, Zhu, Hongbo, Barbaro, Michela, Petillo, David, Khoo, Sok Kean, Borg, Åke, Fan, Yao-Shan, Schoumans, Jacqueline

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 179 KB

english, 2008

27

A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation

Antoinet C.J. Gijsbers, Emilia K. Bijlsma, Marjan M. Weiss, Egbert Bakker, Martijn H. Breuning, Mariëtte J.V. Hoffer, Claudia A.L. Ruivenkamp

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 1.11 MB

english, 2008

28

Differential effects of bacterial lipopolysaccharides upon neutrophil function

Marie-Hélène Ruchaud-Sparagano, Claudia A Ruivenkamp, Philip L Riches, Ian R Poxton, Ian Dransfield

Journal:

Year:

1998

Language:

english

File:

PDF, 418 KB

english, 1998

29

Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A.,

Journal:

Year:

2013

Language:

english

File:

PDF, 342 KB

english, 2013

30

Local preferences of mung bean qualities for food autonomy in India

Singh, Shweta, Singh, Renu, Dahiya, Pradeep Kumar, van Boekel, M.A.J.S., Ruivenkamp, Guido

Journal:

Development in Practice

Year:

2017

File:

PDF, 1.28 MB

2017

31

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

Sollis, Elliot, Deriziotis, Pelagia, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi, Hoffer, Mariette J.V., Ruivenkamp, Claudia A.L., Alders, Mariëlle, Okamoto, Nobuhiko, Bijlsma, Emilia K., Pl

Journal:

Year:

2017

Language:

english

File:

PDF, 1.96 MB

english, 2017

32

Repurposing of diagnostic whole exome sequencing data of 1,583 individuals for clinical pharmacogenetics

Lee, Maaike, Allard, William G., Bollen, Sander, Santen, Gijs W.E., Ruivenkamp, Claudia A.L., Hoffer, Mariëtte J.V., Kriek, Marjolein, Guchelaar, Henk‐Jan, Anvar, Seyed Y., Swen, Jesse J.

Journal:

Clinical Pharmacology & Therapeutics

Year:

2019

Language:

english

File:

PDF, 1.24 MB

english, 2019

33

Five new mouse susceptibility to colon cancer loci, Scc11–Scc15

Csikós, Tamás, Klous, Anita M, van Wezel, Tom, Demant, Peter, Ruivenkamp, Claudia A L

Journal:

Year:

2003

Language:

english

File:

PDF, 97 KB

english, 2003

34

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

H.A. van Duyvenvoorde, J. van Doorn, J. Koenig, L. Gauguin, W. Oostdijk, J.D. Wade, M. Karperien, C.A.L. Ruivenkamp, M. Losekoot, P.A. van Setten, M.J.E. Walenkamp, C. Noordam, P. De Meyts, J.M. Wit

Journal:

Growth Hormone & IGF Research

Year:

2011

Language:

english

File:

PDF, 570 KB

english, 2011

35

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

Ester, Wietske A., van Duyvenvoorde, Hermine A., de Wit, Caroline C., Broekman, Alexander J., Ruivenkamp, Claudia A. L., Govaerts, Lutgarde C. P., Wit, Jan M., Hokken-Koelega, Anita C. S., Losekoot, M

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2009

Language:

english

File:

PDF, 408 KB

english, 2009

36

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1 -related ciliopathies

Khan, Saadullah, Ullah, Imran, Nasir, Abdul, Meijer, C. Arnoud, Laurense-Bik, Marlies, den Dunnen, Johan T., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J. V., Santen, Gijs W. E., Ahmad, Wasim

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 414 KB

english, 2016

37

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

van Rij, M. C., Grijsen, M. L., Appelman-Dijkstra, N. M., Hansson, K. B. M., Ruivenkamp, C. A. L., Mulder, K., van Doorn, R., Oranje, A. P., Kant, S. G.

Journal:

European Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 665 KB

english, 2017

38

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

ACJ Gijsbers, NS Den Hollander, ATJM Helderman-van de Enden, JHM Schuurs-Hoeijmakers, L Vijfhuizen, EK Bijlsma, A Van Haeringen, KBM Hansson, E Bakker, MH Breuning, CAL Ruivenkamp

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 669 KB

english, 2011

39

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

Tan, Ratna N. G. B., Witlox, Ruben S. G. M., Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M. P. C. D., den Hollander, Nicolette S., Ruivenkamp, Claudia A. L., Hoffer, Mariëtte J.V., Hansson, Kerst

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

40

Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome

van Rij, Maartje C., Hollink, Iris H. I. M., Terhal, Paulien Anna, Kant, Sarina G., Ruivenkamp, Claudia, van Haeringen, Arie, Kievit, J. Anneke, van Belzen, Martine J.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 599 KB

english, 2018

41

Promise and Ontological Ambiguity in the In vitro Meat Imagescape: From Laboratory Myotubes to the Cultured Burger

Stephens, Neil, Ruivenkamp, Martin

Journal:

Science as Culture

Year:

2016

Language:

english

File:

PDF, 1.37 MB

english, 2016

42

WHOLE EXOME SEQUENCING IDENTIFIES KNOWN AND UNKNOWN GENES ASSOCIATED WITH MITRAL VALVE PROLAPSE

Van Wijngaarden, Aniek, Hiemstra, Yasmine L., Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Aten, Emmelien, Bax, Jeroen J., Delgado, Victoria, Barge-Schaapveld, Daniela Q.C.M., Marsan, Nina Ajmone

Journal:

Journal of the American College of Cardiology

Year:

2019

File:

PDF, 202 KB

2019

43

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Y Hilhorst-Hofstee, AJHA Scholte, MEB Rijlaarsdam, A van Haeringen, LJ Kroft, M Reijnierse, CAL Ruivenkamp, MIM Versteegh, G Pals, MH Breuning

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 714 KB

english, 2012

44

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Knijnenburg, J, Oberstein, S A J L., Frei, K, Lucas, T, Gijsbers, A C J, Ruivenkamp, C A L, Tanke, H J, Szuhai, K

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 705 KB

english, 2009

45

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects

van der Linde, I. H. M., Hiemstra, Y. L., Bökenkamp, R., van Mil, A. M., Breuning, M. H., Ruivenkamp, C., ten Broeke, S. W., Veldkamp, R. F., van Waning, J. I., van Slegtenhorst, M. A., van Spaendonck

Journal:

Netherlands Heart Journal

Year:

2017

Language:

english

File:

PDF, 534 KB

english, 2017

46

Most Lung and Colon Cancer Susceptibility Genes Are Pair-Wise Linked in Mice, Humans and Rats

Quan, Lei, Stassen, Alphons P. M., Ruivenkamp, Claudia A. L., van Wezel, Tom, Fijneman, Remond J. A., Hutson, Alan, Kakarlapudi, Neelima, Hart, Augustinus A. M., Demant, Peter, Dopazo, Joaquín

Journal:

Year:

2011

Language:

english

File:

PDF, 1.57 MB

english, 2011

47

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

C Halgren, S Kjaergaard, M Bak, C Hansen, Z El-Schich, CM Anderson, KF Henriksen, H Hjalgrim, M Kirchhoff, EK Bijlsma, M Nielsen, NS den Hollander, CAL Ruivenkamp, B Isidor, C Le Caignec, R Zannolli,

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 955 KB

english, 2012

48

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Santen, G. W. E., Sun, Y., Gijsbers, A. C. J., Carre, A., Holvoet, M., Haeringen, A. v., Lesnik Oberstein, S. A. J., Tomoda, A., Mabe, H., Polak, M., Devriendt, K., Ruivenkamp, C. A. L., Bijlsma, E. K

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 384 KB

english, 2012

49

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

Losekoot, M., Ruivenkamp, C. A. L., Tholens, A. P., Grimbergen, J. E. M. A., Vijfhuizen, L., Vermeer, S., Dijkman, H. B., Cornelissen, E. A. M., Bongers, E. M. H. F., Peters, D. J. M.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 553 KB

english, 2012

50

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

van Duyvenvoorde, H. A., van Setten, P. A., Walenkamp, M. J. E., van Doorn, J., Koenig, J., Gauguin, L., Oostdijk, W., Ruivenkamp, C. A. L., Losekoot, M., Wade, J. D., De Meyts, P., Karperien, M., Noo

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 85 KB

english, 2010

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