E-LIB Suche - Ergebnisse für: Prescott, K.

1

Large-scale evaluation of outcomes following a genetic diag..:

Copeland, H ; Low, K.J ; Wynn, S...
https://eprints.whiterose.ac.uk/208872/3/2023.10.18.23297202v1.full.pdf. , 2023

Link: https://eprints.whiteros..

2

Development and internal validation of clinical prediction ..:

Ahmed, S ; Bonnett, L ; Melhuish, A...
doi:10.1093/bjs/znaa117. , 2021

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

3

Development and internal validation of clinical prediction ..:

Ahmed, S ; Bonnett, L ; Melhuish, A...
https://discovery.ucl.ac.uk/id/eprint/10184148/1/Goodman_CABI%20manuscript%20v3.7.pdf. , 2021

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

4

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, L ; Reynhout, S ; Verbinnen, I...
https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdf. , 2020

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

5

Finding diagnostically useful patterns in quantitative phen..:

Aitken, Stuart ; Firth, Helen V ; McRae, Jeremy...
http://eprints.gla.ac.uk/211991/1/211991.pdf. , 2019

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

6

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, J ; McMullan, DJ ; Eberhardt, RY...
https://discovery.ucl.ac.uk/id/eprint/10070239/1/18TL0646.pdf. , 2019

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

7

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, J ; McMullan, DJ ; Eberhardt, RY...
https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdf. , 2019

Link: https://eprints.whiteros..

8

CTCF variants in 39 individuals with a variable neurodevelo..:

Konrad, EDH ; Nardini, N ; Caliebe, A...
https://openaccess.sgul.ac.uk/id/eprint/111563/1/s41436-019-0585-z.pdf. , 2019

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

9

A homozygous STIM1 mutation impairs store-operated calcium ..:

Parry, DA ; Holmes, TD ; Gamper, N...
https://eprints.whiterose.ac.uk/92571/8/1-s2.0-S0091674915013688-main.pdf. , 2016

Link: https://eprints.whiteros..

10

Large-scale discovery of novel genetic causes of developmen..:

Fitzgerald, T.W ; Gerety, S.S ; Jones, W.D...
https://eprints.soton.ac.uk/373093/1/248054_2_merged_1409156614.pdf. , 2015

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

11

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams..:

Meester, JAN ; Southgate, L ; Stittrich, A-B...
https://openaccess.sgul.ac.uk/id/eprint/110213/1/Meester_et%20al.%20AJHG2015.pdf. , 2015

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

12

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...

13

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) ..:

Ansari, M ; Poke, G ; Ferry, Q...
https://discovery.ucl.ac.uk/id/eprint/1443027/1/Genetic%20heterogeneity%20in%20Cornelia%20de%20Lange%20syndrome%20%28CdLS%29%20and%20CdLS-like%20phenotypes%20with%20observed%20and%20predicted%20levels%20of%20mosaicism.pdf. , 2014

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

14

Comprehensive clinical and molecular analysis of 12 familie..:

Callewaert, B ; Su, C.T ; Van Damme, T...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.22165. , 2013

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

15

Impact of asthma on educational attainment in a socioeconom..:

Sturdy, P ; Bremner, S ; Harper, G...
https://openaccess.city.ac.uk/id/eprint/13543/1/Impact%20of%20asthma%20on%20educational%20attainment%20in%20a%20socioeconomically%20deprived%20population%3A%20a%20study%20linking%20health,%20education%20and%20social%20care%20datasets.pdf. , 2012

Link: https://openaccess.city...