E-LIB Suche - Ergebnisse für: van de Burgt, I.

1

Subsurface Sediment Mobilization in the Southern Chryse Pla..:

Brož, P. ; Hauber, E. ; van de Burgt, I...
Journal of Geophysical Research: Planets. 124 (2019) 3 - p. 703-720 , 2019

Link: https://doi.org/10.1029/..

2

Okur‐Chung neurodevelopmental syndrome: Eight additional ca..:

Chiu, A.T.G. ; Pei, S.L.C. ; Mak, C.C.Y....
Clinical Genetics. 93 (2018) 4 - p. 880-890 , 2018

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

3

Activating mutations in RRAS underlie a phenotype within th..:

Flex, E. ; Jaiswal, M. ; Pantaleoni, F....
Human Molecular Genetics. 23 (2014) 16 - p. 4315-4327 , 2014

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

4

Cognitive functioning of adults with Noonan syndrome: a cas..:

Wingbermühle, E. ; Roelofs, R. L. ; van der Burgt, I....
Genes, Brain and Behavior. 11 (2012) 7 - p. 785-793 , 2012

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

5

Infant with MCA and severe cutis laxa due to a de novo dupl..:

Gardeitchik, T. ; de Leeuw, N. ; Nijtmans, L....
American Journal of Medical Genetics Part A. 158A (2011) 2 - p. 469-472 , 2011

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

6

Affective functioning and social cognition in Noonan syndro..:

Wingbermühle, E. ; Egger, J. I. M. ; Verhoeven, W. M. A...
Psychological Medicine. 42 (2011) 2 - p. 419-426 , 2011

Link: https://doi.org/10.1017/..

7

Prenatal detection of Noonan syndrome by mutation analysis ..:

Houweling, A. C. ; de Mooij, Y. M. ; van der Burgt, I....
Prenatal Diagnosis. 30 (2010) 3 - p. 284-286 , 2010

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

8

Long-term GH treatment improves adult height in children wi..:

Noordam, C ; Peer, P G M ; Francois, I...
European Journal of Endocrinology. 159 (2008) 3 - p. 203-208 , 2008

Link: https://doi.org/10.1530/..

9

Impaired Sertoli Cell Function in Males Diagnosed with Noon..:

Marcus, K.A. ; Sweep, C.G.J. ; van der Bürgt, I..
Journal of Pediatric Endocrinology and Metabolism. 21 (2008) 11 - p. , 2008

Link: https://doi.org/10.1515/..

10

Mutation and phenotypic spectrum in patients with cardio-fa..:

Schulz, AL ; Albrecht, B ; Arici, C...
Clinical Genetics. 73 (2007) 1 - p. 62-70 , 2007

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

11

A 2‐bp deletion in the GJA1 gene is associated with oculo‐d..:

van Steensel, M.A.M. ; Spruijt, L. ; van der Burgt, I....
American Journal of Medical Genetics Part A. 132A (2004) 2 - p. 171-174 , 2004

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

12

Isolated sulfite oxidase deficiency: mutation analysis and ..:

Johnson, J. L. ; Rajagopalan, K. V. ; Renier, W. O...
Prenatal Diagnosis. 22 (2002) 5 - p. 433-436 , 2002

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

13

Growth hormone treatment in children with Noonan's syndrome..:

Noordam, C ; Van Der Burgt, I ; Sengers, R C A..
Acta Paediatrica. 90 (2001) 8 - p. 889-894 , 2001

Link: https://doi.org/10.1080/..

14

3-M syndrome: description of six new patients with review o..:

van der Wal, G. ; Otten, B. J. ; Brunner, H. G..
Clinical Dysmorphology. 10 (2001) 4 - p. 241-252 , 2001

Link: https://doi.org/10.1097/..

15

Correction: Mutations in the protein tyrosine kinase gene, ..:

Tartaglia, M. ; Mehler, E.L. ; Goldberg, R....
Nature Genetics. 29 (2001) 4 - p. 491-491 , 2001

Link: https://doi.org/10.1038/..