E-LIB Suche - Ergebnisse für: UK10K

1

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune ..:

Miriam Schmidts ; Yuqing Hou ; Claudio R. Cortés...
https://doi.org/10.1038/ncomms11270. , 2016

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

2

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dys..:

UK10K ; Paunio, Tiina
10.1038/ncomms8074. , 2016

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

3

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dys..:

Schmidts, M ; Hou, Y ; Cortés, CR...
https://discovery.ucl.ac.uk/id/eprint/1471715/1/TCTEX1D2%20mutations%20underlie%20Jeune%20asphyxiating%20thoracic%20dystrophy%20with%20impaired%20retrograde%20intraflagellar%20transport.pdf. , 2015

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

4

'Pop-Up' Governance: developing internal governance framewo..:

Kaye, Jane ; Muddyman, Dawn ; Smee, Carol...
http://www.lsspjournal.com/content/11/1/10. , 2015

Link: http://www.lsspjournal.c..

5

'Pop-Up' Governance: developing internal governance framewo..:

Kaye, J ; Muddyman, D ; Smee, C...
issn:2195-7819. , 2015

Link: http://hdl.handle.net/11..

6

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dys..:

Schmidts, M ; Hou, Y ; Cortés, CR...
https://openaccess.sgul.ac.uk/id/eprint/112984/1/TCTEX1D2%20mutations%20underlie%20Jeune%20asphyxiating%20thoracic%20dystrophy%20with%20impaired%20retrograde%20intraflagellar%20transport.pdf. , 2015

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

7

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dys..:

Schmidts, Miriam ; Hou, Yuqing ; Cortés, Claudio R...
https://www.repository.cam.ac.uk/handle/1810/277468. , 2015

Link: https://www.repository.c..

8

Gene discovery for motile cilia disorders: mutation spectru..:

Onoufriadis, A ; Hjeij, R ; Watson, CM...
http://www.ciliajournal.com/content/4/S1/P30. , 2015

Link: http://www.ciliajournal...

9

Targeted NGS gene panel identifies mutations in RSPH1 causi..:

Onoufriadis, A ; Shoemark, A ; Schmidts, M...
https://discovery.ucl.ac.uk/id/eprint/1421714/1/Hum._Mol._Genet.-2014-Onoufriadis-3362-74.pdf. , 2014

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

10

Exome sequencing identifies DYNC2H1 mutations as a common c..:

Schmidts, M ; Arts, HH ; Bongers, EM...
https://discovery.ucl.ac.uk/id/eprint/1369493/1/1369493.pdf. , 2013

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

11

Mutations in the Gene Encoding IFT Dynein Complex Component..:

Schmidts, M ; Vodopiutz, J ; Christou-Savina, S...
https://discovery.ucl.ac.uk/id/eprint/1414853/1/1-s2.0-S0002929713004606-main.pdf. , 2013

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

12

Exome sequencing identifies DYNC2H1 mutations as a common c..:

Schmidts, M ; Arts, H.H ; Bongers, E.M...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2012-101284. , 2013

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

13

Mutations in the Gene Encoding IFT Dynein Complex Component..:

Schmidts, Miriam ; Vodopiutz, Julia ; Christou-Savina, Sonia...
qt24q016kx. , 2013

Link: https://escholarship.org..

14

Use of targeted exome sequencing as a diagnostic tool for f..:

Futema, M ; Plagnol, V ; Whittall, RA...
https://discovery.ucl.ac.uk/id/eprint/1371175/1/J_Med_Genet-2012-Futema-644-9.pdf. , 2012

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

15

Human Semaphorin 3 Variants Link Melanocortin Circuit Devel..:

van der Klaauw, Agatha A ; Croizier, Sophie ; Mendes de Oliveira, Edson...
https://www.repository.cam.ac.uk/handle/1810/288526. , 2019

Link: https://www.repository.c..