E-LIB Suche - Ergebnisse für: Firth, HV - Sprache DE

Personensuche X

Sortierung: Relevanz

Sortierung: Jahr

1

Genomic diagnosis of rare pediatric disease in the United K..:

Wright, CF ; Campbell, P ; Eberhardt, RY...
doi:10.1056/nejmoa2209046. , 2023

Link: https://doi.org/10.1056/..

2

Genomic diagnosis of rare pediatric disease in the United K..:

Wright, CF ; Campbell, P ; Eberhardt, RY...
orcid:0000-0003-2958-5076 (Wright, Caroline). , 2023

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

3

The Gene Curation Coalition: a global effort to harmonize g..:

DiStefano, MT ; Goehringer, S ; Babb, L...
Genetics in Medicine. , 2022

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

4

The Gene Curation Coalition: A global effort to harmonize g..:

DiStefano, MT ; Goehringer, S ; Babb, L...
issn:1098-3600. , 2022

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

5

Genetic testing in paediatric neurology – which test to cho..:

Radford, EJ ; Parker, APJ ; Firth, HV
https://www.repository.cam.ac.uk/handle/1810/322354. , 2021

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

6

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, CF ; Quaife, NM ; Ramos-Hernández, L...
American Journal of Human Genetics. , 2021

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

7

GA4GH: International policies and standards for data sharin..:

Rehm, HL ; Page, AJH ; Smith, L...
issn:2666-979X. , 2021

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

8

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, J ; Samocha, KE ; Wiel, L...
https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdf. , 2020

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

9

Clinically-relevant postzygotic mosaicism in parents and ch..:

Wright, CF ; Prigmore, E ; Rajan, D...
https://www.repository.cam.ac.uk/handle/1810/307614. , 2020

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

10

A framework for an evidence-based gene list relevant to aut..:

Schaaf, CP ; Betancur, C ; Yuen, RKC...
https://discovery.ucl.ac.uk/id/eprint/10100743/3/Skuse_A%20framework%20for%20an%20evidence-based%20gene%20list%20relevant%20to%20autism%20spectrum%20disorder_AAM.pdf. , 2020

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

11

Enabling global clinical collaborations on identifiable pat..:

Nellåker, C ; Alkuraya, FS ; Baynam, G...
doi:10.3389/fgene.2019.00611. , 2019

Link: https://doi.org/10.3389/..

12

The genetics of developmental disorders:

Radford, EJ ; Firth, HV
https://www.repository.cam.ac.uk/handle/1810/313931. , 2019

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

13

Finding diagnostically useful patterns in quantitative phen..:

Aitken, S ; Firth, HV ; McRae, J...
https://eprints.whiterose.ac.uk/164184/1/Finding%20Diagnostically%20Useful%20Patterns%20in%20Quantitative%20Phenotypic%20Data.pdf. , 2019

Link: https://eprints.whiteros..

14

Registered access: authorizing data access:

Dyke, SOM ; Linden, M ; Lappalainen, I...
https://discovery.ucl.ac.uk/id/eprint/10055187/7/Beck%20VoR%20s41431-018-0219-y.pdf. , 2018

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

15

Clinical and molecular consequences of disease-associated d..:

Bengani, H ; Handley, M ; Alvi, M...
https://openaccess.sgul.ac.uk/id/eprint/109307/1/gim2016211.pdf. , 2017

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

1-15