E-LIB Suche - Ergebnisse für: Pittman, J.

1

Mosaic BRAF fusions are a recurrent cause of congenital mel..:

Martin, SB ; Polubothu, S ; Bruzos, AL...
https://openaccess.sgul.ac.uk/id/eprint/115732/1/PIIS0022202X2302568X.pdf. , 2023

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

2

A walk in the PARC: developing and implementing 21st centur..:

Marx-Stoelting, P ; Rivière, G ; Luijten, M...
https://doi.org/10.1007/s00204-022-03435-7. , 2023

Link: https://hdl.handle.net/2..

3

A walk in the PARC: developing and implementing 21st centur..:

Marx-Stoelting, P ; Rivière, G ; Luijten, M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968685/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, EF ; Chilian, M ; Karimiani, EG...
https://openaccess.sgul.ac.uk/id/eprint/115082/1/1-s2.0-S1098360022010000-main.pdf. , 2023

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

5

A walk in the PARC: developing and implementing 21st centur..:

P. Marx-Stoelting ; G. Rivière ; K. Aiello-Holden...
info:eu-repo/grantAgreement/EC/HE/101057014/. , 2023

Link: https://zenodo.org/recor..

6

A walk in the PARC: developing and implementing 21st centur..:

Marx-Stoelting, P ; Rivière, G ; Luijten, M...
101057014. , 2023

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

7

Whole genome sequencing in the 100,000 Genomes project iden..:

Ben-Haim, Y ; Sangaralingam, A ; Pittman, A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10207587/. , 2023

Link: http://www.ncbi.nlm.nih...

8

Genetic Insights from Consanguineous Cardiomyopathy Familie:

Maurer, C ; Boleti, O ; Najarzadeh Torbati, P...
https://openaccess.sgul.ac.uk/id/eprint/115158/1/genes-14-00182.pdf. , 2023

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

9

Presacral malakoplakia presenting as foot drop: a case repo..:

Yates, TA ; Devlin, K ; Arnaout, A...
https://openaccess.sgul.ac.uk/id/eprint/115392/1/s13256-023-03883-4.pdf. , 2023

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

10

Genetic analyses of the electrocardiographic QT interval an..:

Young, WJ ; Lahrouchi, N ; Isaacs, A...
NATURE COMMUNICATIONS. , 2022

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

11

Genetic analyses of the electrocardiographic QT interval an..:

Young, W.J ; Lahrouchi, N ; Isaacs, A...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-022-32821-z. , 2022

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

12

Rare variation in drug metabolism and Long QT genes and the..:

Gray, B ; Baruteau, AE ; Antolin, AA...
info:eu-repo/grantAgreement/EC/H2020/733381/. , 2022

Link: https://zenodo.org/recor..

13

Genetic analyses of the electrocardiographic QT interval an..:

Young, WJ ; Lahrouchi, N ; Isaacs, A...
https://openaccess.sgul.ac.uk/id/eprint/114833/1/41467_2022_Article_32821.pdf. , 2022

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

14

Regulation of mitophagy by the NSL complex underlies geneti..:

Soutar, MPM ; Melandri, D ; O'Callaghan, B...
https://openaccess.sgul.ac.uk/id/eprint/114834/1/awac325.pdf. , 2022

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

15

Genetic analyses of the electrocardiographic QT interval an..:

Young W. J ; Lahrouchi N ; Isaacs A...
info:eu-repo/semantics/altIdentifier/pmid/36050321. , 2022

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