E-LIB Suche - Ergebnisse für: Hartill, V

1

Investigation into the Importance of genes encoding ciliary..:

Hartill, V ; Logan, C ; Parry, DA...
Cilia. 4 (2015) S1 - p. , 2015

2

Genetic association analysis of 77,539 genomes reveals rare..:

Greene, D ; Genomics England Research Consortium ; Pirri, D...
https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdf. , 2023

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

3

Genetic association analysis of 77,539 genomes reveals rare..:

Greene, D ; Genomics England Research Consortium ; Pirri, D...
Nature Medicine. , 2023

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

4

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino S ; Hartill V ; Colyer A...
info:eu-repo/semantics/altIdentifier/pmid/31949313. , 2020

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

5

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, S ; Hartill, V ; Colyer, A...
GENETICS IN MEDICINE. , 2020

Link: https://qmro.qmul.ac.uk/..

6

Correction: A restricted spectrum of missense KMT2D variant..:

Cuvertino, S ; Hartill, V ; Colyer, A...
15300366. , 2020

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

7

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, S ; Hartill, V ; Colyer, A...
https://eprints.whiterose.ac.uk/155068/14/s41436-019-0743-3.pdf. , 2020

Link: https://eprints.whiteros..

8

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, S ; Hartill, V ; Colyer, A...
https://openaccess.sgul.ac.uk/id/eprint/111581/11/s41436-019-0743-3.pdf. , 2020

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

9

Novel loss-of-function mutation in HERC2 is associated with..:

Elpidorou, M ; Best, S ; Poulter, JA...
https://eprints.whiterose.ac.uk/160583/8/jmedgenet-2020-106873.full.pdf. , 2020

Link: https://eprints.whiteros..

10

Meckel-Gruber Syndrome: An update on diagnosis, clinical ma..:

Hartill, V ; Szymanska, K ; Sharif, S.M..
https://eprints.soton.ac.uk/423509/1/fped_05_00244.pdf. , 2017

Link: https://eprints.soton.ac..

11

Meckel–Gruber syndrome: An update on diagnosis, clinical ma..:

Hartill, V ; Szymanska, K ; Malik Sharif, S..
http://eprints.uwe.ac.uk/33891/1/Final%20published%20paper.pdf. , 2017

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

12

HACE1 deficiency causes an autosomal recessive neurodevelop..:

Hollstein, R ; Parry, D.A ; Nalbach, L...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2015-103344. , 2015

Link: https://push-zb.helmholt..

13

HACE1 deficiency causes an autosomal recessive neurodevelop..:

Hollstein, R ; Parry, D.A ; Nalbach, L...
Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344. , 2015

Link: https://scholarbank.nus...

14

Investigation into the Importance of genes encoding ciliary..:

Hartill, V ; Logan, C ; Parry, DA...
http://www.ciliajournal.com/content/4/S1/P9. , 2015

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

15

Soil nitrous oxide and methane fluxes from a land-use chang..:

Swails, Erin ; Drewer, Julia ; Hartill, Jodie...
Biogeochemistry. 167 (2023) 4 - p. 363-381 , 2023

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