E-LIB Suche - Ergebnisse für: Stolte-Dijkstra, Irene

1

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutc..:

Vansenne, Fleur ; Fock, Johanna M. ; Stolte-Dijkstra, Irene...
European Journal of Paediatric Neurology. 41 (2022) - p. 91-98 , 2022

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

2

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
Nature Communications. 9 (2018) 1 - p. , 2018

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

3

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

Hernandez-Miranda, Luis Rodrigo ; Ibrahim, Daniel M. ; Ruffault, Pierre-Louis...
Proceedings of the National Academy of Sciences of the United States of America. 115 (2018) 51 - p. 13021-13026 , 2018

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

4

Mutation inLBX1/Lbx1precludes transcription factor cooperat..:

Hernandez-Miranda, Luis Rodrigo ; Ibrahim, Daniel M. ; Ruffault, Pierre-Louis...
Proceedings of the National Academy of Sciences. 115 (2018) 51 - p. 13021-13026 , 2018

Link: https://doi.org/10.1073/..

5

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/..

6

Germline mutations in DIS3L2 cause the Perlman syndrome of ..:

Astuti, Dewi ; Morris, Mark R ; Cooper, Wendy N...
Nature Genetics. 44 (2012) 3 - p. 277-284 , 2012

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

7

Mutations of the catalytic subunit of RAB3GAP cause Warburg..:

Aligianis, Irene A ; Johnson, Colin A ; Gissen, Paul...
Nature Genetics. 37 (2005) 3 - p. 221-224 , 2005

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

8

Mutations in PTF1A cause pancreatic and cerebellar agenesis:

Sellick, Gabrielle S ; Barker, Karen T ; Stolte-Dijkstra, Irene...
Nature Genetics. 36 (2004) 12 - p. 1301-1305 , 2004

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

9

Perlman syndrome: Four additional cases and review:

Henneveld, Hetty Th. ; van Lingen, Richard A. ; Hamel, Ben C.J...
American Journal of Medical Genetics. 86 (1999) 5 - p. 439-446 , 1999

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

10

Refinement by linkage analysis in two large families of the..:

Verschuuren-Bemelmans, Corien C. ; Brunt, Ewout R. P. ; Burton, Margaret...
Human Genetics. 96 (1995) 6 - p. 691-694 , 1995

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

11

Phenotypic expansion of EGP5-related Vici syndrome:15 Dutch..:

Vansenne, Fleur ; Fock, Johanna M ; Stolte-Dijkstra, Irene...
https://research.rug.nl/en/publications/0dc451ce-a839-4ccb-a9ea-a7b527eba443. , 2022

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

12

A clinical scoring system for congenital contractural arach..:

Meerschaut, Ilse ; De Coninck, Shana ; Steyaert, Wouter...
https://research.rug.nl/en/publications/220cefa5-d8d0-4c40-ae22-d1670e836230. , 2020

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

13

A clinical scoring system for congenital contractural arach..:

Meerschaut, Ilse ; De Coninck, Shana ; Steyaert, Wouter...
uri/info:doi/10.1038/s41436-019-0609-8. , 2019

Link: http://hdl.handle.net/20..

14

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-05191-8. , 2018

Link: https://hal.sorbonne-uni..

15

SLC10A7 mutations cause a skeletal dysplasia with amelogene..:

Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-018-05191-8. , 2018

Link: https://hal.sorbonne-uni..