E-LIB Suche - Ergebnisse für: Stolte‐Dijkstra, I.

1

Normal very‐long‐chain fatty acids in peroxisomal D‐bifunct..:

Soorani‐Lunsing, R. J. ; van Spronsen, F. J. ; Stolte‐Dijkstra, I....
Journal of Inherited Metabolic Disease. 28 (2005) 6 - p. 1172-1174 , 2005

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

2

C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutat..:

Zou, Y. ; Schessl, J. ; Lampe, A....
Neuromuscular Disorders. 17 (2007) 9-10 - p. 844 , 2007

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

3

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–..:

VAN ZELDEREN-BHOLA, S. L. ; BRESLAU-SIDERIUS, E. J. ; BEVERSTOCK, G. C....
Prenatal Diagnosis. 17 (1997) 2 - p. 173-179 , 1997

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

4

INCREASED β- AND ω-OXIDATION OF FATTY ACIDS IN THE SILVER R..:

Willems, P J ; Stolte-Dijkstra, I ; Schierbeek, H..
Pediatric Research. 19 (1985) 10 - p. 1076-1076 , 1985

Link: https://doi.org/10.1203/..

5

Two cases of severe neonatal hypertrophic cardiomyopathy ca..:

Deprez, R H Lekanne ; Muurling‐Vlietman, J J ; Hruda, J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563166. , 2006

Link: http://www.ncbi.nlm.nih...

6

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, J ; Huber, C ; Chantepie, S...
https://openaccess.sgul.ac.uk/id/eprint/110393/1/s41467-018-05191-8.pdf. , 2018

Link: https://openaccess.sgul...

7

Mutation in LBX1/Lbx1 precludes transcription factor cooper..:

Hernandez-Miranda, LR ; Ibrahim, DM ; Ruffault, PL...
Hernandez-Miranda , LR , Ibrahim , DM , Ruffault , PL , Larrosa , M , Balueva , K , Muller , T , de Weerd , W , Stolte-Dijkstra , I , Hofstra , R , Brunet , JF , Fortin , G , Mundlos , S & Birchmeier , C 2018 , ' Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice ' , Proceedings of the National Academy of Sciences of the United States of Ame , vol. 115 , no. 51 , pp. 13021-13026 . https://doi.org/10.1073/pnas.1813520115. , 2018

Link: https://pure.eur.nl/en/p..

8

Mutation in LBX1/Lbx1 precludes transcription factor cooper..:

Hernandez-Miranda, L.R ; Ibrahim, D.M ; Ruffault, P.L...
http://edoc.mdc-berlin.de/17905/1/17905oa.pdf. , 2018

Link: http://edoc.mdc-berlin.d..

9

X-linked hypomyelination with spondylometaphyseal dysplasia..:

Miyake, N ; Wolf, N.I ; Cayami, F.K...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10048-017-0520-x. , 2017

Link: https://serval.unil.ch/n..

10

Hirschsprung disease and L1CAM: is the disturbed sex ratio ..:

Hofstra, R ; Elfferich, P ; Osinga, J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735064. , 2002

Link: http://www.ncbi.nlm.nih...

11

Maternal uniparental disomy for chromosome 14 in a boy with..:

Hordijk, R ; Wierenga, H ; Scheffer, H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734247. , 1999

Link: http://www.ncbi.nlm.nih...

12

Mutation in LBX1/Lbx1 precludes transcription factor cooper..:

Hernandez-Miranda, L.R. (Luis Rodrigo) ; Ibrahim, D.M. (Daniel) ; Ruffault, P.-L. (Pierre-Louis)...
http://repub.eur.nl/pub/113404. , 2018

Link: http://repub.eur.nl/pub/..

13

The unfolding clinical spectrum of holoprosencephaly due to..:

Paulussen, A.D.C. (Aimée) ; Schrander-Stumpel, C.T.R.M. (Constance) ; Tserpelis, D.C.J. (Demis)...
http://repub.eur.nl/pub/20845. , 2010

Link: http://repub.eur.nl/pub/..

14

X-linked hypomyelination with spondylometaphyseal dysplasia..:

Miyake, Noriko ; Wolf, Nicole I. ; Cayami, Ferdy K....
neurogenetics. 18 (2017) 4 - p. 185-194 , 2017

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

15

X-linked hypomyelination with spondylometaphyseal dysplasia..:

Miyake, Noriko ; Wolf, Nicole I ; Cayami, Ferdy K...
https://research.rug.nl/en/publications/efc12237-57f5-4508-93d4-52edfd7619c5. , 2017

Link: https://hdl.handle.net/1..