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1

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

Vandervore, Laura V., Schot, Rachel, Hoogeboom, A. Jeannette M., Lincke, Carsten, de Coo, Irenaeus F., Lequin, Maarten H., Dremmen, Marjolein, van Unen, Leontine M.A., Saris, Jasper J., Jansen, Anna C

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 3.75 MB

english, 2018

2

315 The Effect of Ambient Temperature on the Performance of Mailed Fecal Immunochemical Tests for Population-Based Screening

Doubeni, Chyke A., Pietrofesa, Ralph, Jensen, Christopher D., Ghai, Nirupa R., Quinn, Virginia P., Bledsoe, Karlos, Lee, Alexander T., Zhao, Wei, Van Ballegooijen, Marjolein, Zauber, Ann G., Schotting

Journal:

Gastroenterology

Year:

2014

Language:

english

File:

PDF, 581 KB

english, 2014

3

CRP-meting bij kinderen?

Schot, Marjolein

Journal:

Huisarts en wetenschap

Year:

2015

Language:

dutch

File:

PDF, 515 KB

dutch, 2015

4

Communicatietoets in de opleiding moet beter!

Schot, Marjolein, van Winden, Larissa, Luymes, Clare

Journal:

Huisarts en wetenschap

Year:

2015

Language:

dutch

File:

PDF, 493 KB

dutch, 2015

5

Hapten Design for Antibody-Catalyzed Decarboxylation and Ring-Opening Reactions of Benzisoxazoles

Sergeeva, Masha V., Yomtova, Vihra, Parkinson, Adrian, Overgaauw, Marjolein, Pomp, Rikus, Schots, Arjen, Kirby, Anthony J., Hilhorst, Riet

Journal:

Israel Journal of Chemistry

Year:

1996

Language:

english

File:

PDF, 1.04 MB

english, 1996

6

Diagnostic value of signs, symptoms and diagnostic tests for diagnosing pneumonia in ambulant children in developed countries: a systematic review

Schot, Marjolein J. C., Dekker, Anne R. J., Giorgi, Wesley G., Hopstaken, Rogier M., de Wit, Niek J., Verheij, Theo J. M., Cals, Jochen W. L.

Journal:

npj Primary Care Respiratory Medicine

Year:

2018

Language:

english

File:

PDF, 710 KB

english, 2018

7

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

Dobyns, William B., Aldinger, Kimberly A., Ishak, Gisele E., Mirzaa, Ghayda M., Timms, Andrew E., Grout, Megan E., Dremmen, Marjolein H.G., Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon A

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.97 MB

english, 2018

8

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Clair

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 3.12 MB

english, 2019

9

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Clair

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 3.12 MB

2019