E-LIB Suche - Ergebnisse für: Rump, P.

1

De novo variants in CDK13 associated with syndromic ID/DD: ..:

van den Akker, W.M.R. ; Brummelman, I. ; Martis, L.M....
Clinical Genetics. 93 (2018) 5 - p. 1000-1007 , 2018

Link: https://doi.org/10.1111/..

2

Male patients affected by mosaic PCDH19 mutations: five new..:

de Lange, I. M. ; Rump, P. ; Neuteboom, R. F....
neurogenetics. 18 (2017) 3 - p. 147-153 , 2017

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

3

OP11 – 2424: Genotype–phenotype correlations in patients wi..:

Vlaskamp, D.R.M. ; Callenbach, P.M.C. ; Rump, P....
European Journal of Paediatric Neurology. 19 (2015) - p. S4 , 2015

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

4

Common Severe Infections in Chronic Granulomatous Disease:

Marciano, B. E. ; Spalding, C. ; Fitzgerald, A....
Clinical Infectious Diseases. 60 (2014) 8 - p. 1176-1183 , 2014

Link: https://doi.org/10.1093/..

5

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggi..:

Rump, P ; Niessen, RC ; Verbruggen, KT...
Clinical Genetics. 79 (2011) 2 - p. 183-188 , 2011

Link: https://doi.org/10.1111/..

6

Atopic manifestations during childhood and fetal exposure t..:

Dirix, C. E. H. ; Hogervorst, J. G. F. ; Rump, P....
Clinical & Experimental Allergy. 41 (2011) 10 - p. 1493-1494 , 2011

Link: https://doi.org/10.1111/..

7

Corrigendum to: Functional analysis of novel TBX5 T-box mut..:

Boogerd, C. J. J. ; Dooijes, D. ; Ilgun, A....
Cardiovascular Research. 89 (2010) 1 - p. 253-253 , 2010

Link: https://doi.org/10.1093/..

8

Functional analysis of novel TBX5 T-box mutations associate..:

Boogerd, C. J. J. ; Dooijes, D. ; Ilgun, A....
Cardiovascular Research. 88 (2010) 1 - p. 130-139 , 2010

Link: https://doi.org/10.1093/..

9

Drayer's syndrome of mental retardation, microcephaly, shor..:

Rump, P ; Dijkhuizen, T ; Sikkema-Raddatz, B...
Clinical Genetics. 74 (2008) 5 - p. 455-462 , 2008

Link: https://doi.org/10.1111/..

10

Severe complications in a child with achondroplasia and two..:

Rump, P. ; Letteboer, T.G.W. ; Gille, J.J.P....
American Journal of Medical Genetics Part A. 140A (2006) 3 - p. 284-290 , 2006

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

11

WITHDRAWN: Determinants of overweight in a Dutch children c..:

Posthumus, D.L.A. ; Mariman, E.C.M. ; Bouwman, F.G....
Appetite. , 2006

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

12

Tumor risk in Beckwith–Wiedemann syndrome: A review and met..:

Rump, P. ; Zeegers, M.P.A. ; van Essen, A.J.
American Journal of Medical Genetics Part A. 136A (2005) 1 - p. 95-104 , 2005

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

13

Response to Fukuzawa et al. correspondence "Correct Usage o..:

Rump, P. ; Zeegers, M.P.A. ; van Essen, A.J.
American Journal of Medical Genetics Part A. 138A (2005) 4 - p. 413-414 , 2005

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

14

A novel 3-bp deletion in the PANK2 gene of Dutch patients w..:

Rump, P. ; Lemmink, H. H. ; Verschuuren-Bemelmans, C. C....
Neurogenetics. 6 (2005) 4 - p. 201-207 , 2005

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

15

Components of the insulin resistance syndrome in seven-year..:

Rump, P. ; Popp-Snijders, C. ; Heine, R. J..
Diabetologia. 45 (2002) 3 - p. 349-355 , 2002

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