E-LIB Suche - Ergebnisse für: Maat-Kievit, A.A. (Anneke)

1

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie...
European Journal of Medical Genetics. 58 (2015) 5 - p. 279-292 , 2015

Link: https://doi.org/10.1016/..

2

Identification of Regions Critical for the Integrity of the..:

Santiago Lima, Arthur Jorge ; Hoogeveen-Westerveld, Marianne ; Nakashima, Akio...
PLoS ONE. 9 (2014) 4 - p. e93940 , 2014

Link: https://doi.org/10.1371/..

3

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Cau..:

Sun, Yu ; Almomani, Rowida ; Breedveld, Guido J....
Human Mutation. 34 (2013) 5 - p. 706-713 , 2013

Link: https://doi.org/10.1002/..

4

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans:

Rutten, Julie W. ; Boon, Elles M.J. ; Liem, Michael K....
Human Mutation. 34 (2013) 11 - p. 1486-1489 , 2013

Link: https://doi.org/10.1002/..

5

PRRT2phenotypes and penetrance of paroxysmal kinesigenic dy..:

van Vliet, Rianne ; Breedveld, Guido ; de Rijk-van Andel, Johanneke...
Neurology. 79 (2012) 8 - p. 777-784 , 2012

Link: https://doi.org/10.1212/..

6

Breakpoint mapping of 13 large parkin deletions/duplication..:

Elfferich, Peter ; Verleun-Mooijman, Marja C. ; Maat-Kievit, J. Anneke...
neurogenetics. 12 (2011) 4 - p. 263-271 , 2011

Link: https://doi.org/10.1007/..

7

Analysis of TSC1 truncations defines regions involved in TS..:

Hoogeveen-Westerveld, Marianne ; Exalto, Carla ; Maat-Kievit, Anneke...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (2010) 9 - p. 774-781 , 2010

Link: https://doi.org/10.1016/..

8

Estimating Decreased Risks for Huntington Disease without a..:

Timman, Reinier ; Bonke, Benno ; Stijnen, Theo..
European Journal of Epidemiology. 23 (2008) 4 - p. 281-287 , 2008

Link: https://www.jstor.org/st..

9

Functional characterisation of the TSC1–TSC2 complex to ass..:

Nellist, Mark ; Sancak, Őzgür ; Goedbloed, Miriam...
BMC Medical Genetics. 9 (2008) 1 - p. , 2008

Link: https://doi.org/10.1186/..

10

Estimating decreased risks for Huntington disease without a..:

Timman, Reinier ; Bonke, Benno ; Stijnen, Theo..
European Journal of Epidemiology. 23 (2008) 4 - p. 281-287 , 2008

Link: https://doi.org/10.1007/..

11

Adverse Effects of Predictive Testing for Huntington Diseas..:

Timman, Reinier ; Roos, Raymund ; Maat-Kievit, Anneke.
Health Psychology. 23 (2004) 2 - p. 189-197 , 2004

Link: https://doi.org/10.1037/..

12

Experience in prenatal testing for Huntington's disease in ..:

Maat-Kievit, Anneke ; Vegter-van der Vlis, Maria ; Zoeteweij, Moniek...
Prenatal Diagnosis. 19 (1999) 5 - p. 450-457 , 1999

Link: https://doi.org/10.1002/..

13

Predictive testing of 25 percent at-risk individuals for Hu..:

Maat-Kievit, Anneke ; Vegter-van der Vlis, Maria ; Zoeteweij, Moniek...
American Journal of Medical Genetics. 88 (1999) 6 - p. 662-668 , 1999

Link: https://doi.org/10.1002/..

14

Targeted Next Generation Sequencing reveals previously unid..:

Nellist, Mark ; Brouwer, Rutger WW ; Kockx, Christel EM...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

15

Legius syndrome in fourteen families:

Denayer, Ellen ; Chmara, Magdalena ; Brems, Hilde...
Human Mutation. 32 (2010) 1 - p. E1985-E1998 , 2010

Link: https://doi.org/10.1002/..