E-LIB Suche - Ergebnisse für: Chanudet, E

1

Mutation of SALL2 causes recessive ocular coloboma in human..:

Kelberman, D. ; Islam, L. ; Lakowski, J....
Human Molecular Genetics. 23 (2014) 10 - p. 2511-2526 , 2014

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

2

A20 deletion is associated with copy number gain at the TNF..:

Chanudet, E ; Ye, H ; Ferry, J...
The Journal of Pathology. 217 (2008) 3 - p. 420-430 , 2008

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

3

Chlamydia psittaci is variably associated with ocular adnex..:

Chanudet, E ; Zhou, Y ; Bacon, CM...
The Journal of Pathology. 209 (2006) 3 - p. 344-351 , 2006

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

4

Exome sequencing identifies variants in FKBP4 that are asso..:

Demetriou, C ; Chanudet, E ; GOSgene...
https://discovery.ucl.ac.uk/id/eprint/10079840/3/Stanier_Exome%20sequencing%20identifies%20variants%20in%20FKBP4%20that%20are%20associated%20with%20recurrent%20fetal%20loss%20in%20humans_AAM.pdf. , 2019

Link: https://discovery.ucl.ac..

5

The use of whole-exome sequencing to disentangle complex ph..:

Williams, HJ ; Hurst, JR ; Ocaka, L...
https://discovery.ucl.ac.uk/id/eprint/1476390/1/The%20use%20of%20whole-exome%20sequencing%20to%20disentangle%20complex%20phenotypes.pdf. , 2016

Link: https://discovery.ucl.ac..

6

Erratum: The kinetochore protein, CENPF, is mutated in huma..:

Waters, AM ; Asfahani, R ; Carroll, P...
https://discovery.ucl.ac.uk/id/eprint/10051062/1/Chagpier%20865.full.pdf. , 2016

Link: https://discovery.ucl.ac..

7

Acute Inhibition of MEK Suppresses Congenital Melanocytic N..:

Pawlikowski, JS ; Brock, C ; Chen, SC...
https://discovery.ucl.ac.uk/id/eprint/1472159/1/Acute%20Inhibition%20of%20MEK%20Suppresses%20Congenital%20Melanocytic%20Nevus%20Syndrome%20in%20a%20Murine%20Model%20Driven%20by%20Activated%20NRAS%20and%20Wnt%20Signaling.pdf. , 2015

Link: https://discovery.ucl.ac..

8

Acute inhibition of MEK suppresses congenital melanocytic n..:

Pawlikowski, J.S ; Brock, C ; Chen, S.-C...
http://eprints.gla.ac.uk/109118/1/109118.pdf. , 2015

Link: http://eprints.gla.ac.uk..

9

The kinetochore protein, CENPF, is mutated in human ciliopa..:

Waters, AM ; Asfahani, R ; Carroll, P...
https://discovery.ucl.ac.uk/id/eprint/10050761/1/The%20kinetochore%20protein,%20CENPF,%20is%20mutated%20in%20human%20ciliopathy%20and%20microcephaly%20phenotypes.pdf. , 2015

Link: https://discovery.ucl.ac..

10

The kinetochore protein, CENPF, is mutated in human ciliopa..:

Waters, AM ; Asfahani, R ; Carroll, P...
https://discovery.ucl.ac.uk/id/eprint/1460323/1/J_Med_Genet-2015-Waters-147-56.pdf. , 2015

Link: https://discovery.ucl.ac..

11

Mutations in SNX14 cause a distinctive autosomal-recessive ..:

Thomas, AC ; Williams, H ; Setó-Salvia, N...
Am J Hum Genet. 2014 Nov 6;95(5):611-21.. , 2014

Link: http://hdl.handle.net/10..

12

Mutation of SALL2 causes recessive ocular coloboma in human..:

Kelberman, D ; Islam, L ; Lakowski, J...
https://discovery.ucl.ac.uk/id/eprint/1420526/1/Hum._Mol._Genet.-2014-Kelberman-2511-26.pdf. , 2014

Link: https://discovery.ucl.ac..

13

Mutations in SNX14 cause a distinctive autosomal recessive ..:

Thomas, AC ; Williams, H ; Seto-Salvia, N...
https://discovery.ucl.ac.uk/id/eprint/1453669/2/mmc2-1.pdf. , 2014

Link: https://discovery.ucl.ac..

14

Gain-of-function mutations in the phosphatidylserine syntha..:

Sousa, SB ; Jenkins, D ; Chanudet, E...
Nat Genet. 2013 Nov 17. doi:10.1038/ng.2829. [Epub ahead of print]. , 2013

Link: http://hdl.handle.net/10..

15

Intellectual disability, unusual facial morphology and hand..:

Sousa, SB ; Venâncio, M ; Chanudet, E...
Am J Med Genet A. 2013;161(10):2401-6.. , 2013

Link: http://hdl.handle.net/10..