E-LIB Suche - Ergebnisse für: Poulter, James A

1

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis..:

Smith, Claire E L ; Laugel-Haushalter, Virginie ; Hany, Ummey...
Journal of Medical Genetics. 61 (2024) 7 - p. 689-698 , 2024

Link: https://doi.org/10.1136/..

2

IDHwt glioblastomas can be stratified by their transcriptio..:

Tanner, Georgette ; Barrow, Rhiannon ; Ajaib, Shoaib...
Genome Biology. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

The contradictory role of febuxostat in ABCG2 expression an..:

King, Aaron ; Maisey, Thomas ; Harris, Erica L....
Photochemical & Photobiological Sciences. 23 (2024) 6 - p. 1067-1075 , 2024

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

4

A recurrent de novo MAX p.Arg60Gln variant causes a syndrom..:

Harris, Erica L. ; Roy, Vincent ; Montagne, Martin...
The American Journal of Human Genetics. 111 (2024) 1 - p. 119-132 , 2024

Link: https://doi.org/10.1016/..

5

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

6

D-Type Cyclins in Development and Disease:

Saleban, Mostafa ; Harris, Erica L. ; Poulter, James A.
Genes. 14 (2023) 7 - p. 1445 , 2023

Link: https://doi.org/10.3390/..

7

LONGITUDINAL WGS AND WES OF GLIOBLASTOMA REVEAL POTENTIAL P..:

Alghamdi, Yousef ; Tanner, Georgette ; Finetti, Martina...
Neuro-Oncology. 25 (2023) Supplement_3 - p. iii1-iii2 , 2023

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

8

Late-Onset Autosomal Dominant Macular Degeneration Caused b..:

Yahya, Samar ; Smith, Claire E.L. ; Poulter, James A....
Ophthalmology. 130 (2023) 1 - p. 68-76 , 2023

Link: https://doi.org/10.1016/..

9

Targeted nanopore sequencing enables complete characterisat..:

McClinton, Benjamin ; Crinnion, Laura A. ; McKibbin, Martin...
Molecular Genetics & Genomic Medicine. 11 (2023) 6 - p. , 2023

Link: https://doi.org/10.1002/..

10

Recovery of Bone Marrow Function in VEXAS Syndrome-potentia..:

Al-Hakim, Adam ; Cull, Alyssa ; Topping, Joanna...
HemaSphere. 7 (2023) 8 - p. e934 , 2023

Link: https://doi.org/10.1097/..

11

HeterozygousCOL17A1variants are a frequent cause of ameloge..:

Hany, Ummey ; Watson, Christopher M ; Liu, Lu...
Journal of Medical Genetics. 61 (2023) 4 - p. 347-355 , 2023

Link: https://doi.org/10.1136/..

12

De novo missense variants in RRAGC lead to a fatal mTORopat..:

Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie...
Genetics in Medicine. 25 (2023) 7 - p. 100838 , 2023

Link: https://doi.org/10.1016/..

13

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022

Link: https://doi.org/10.1111/..

14

Missense mutation of MAL causes a rare leukodystrophy simil..:

Elpidorou, Marilena ; Poulter, James A. ; Szymanska, Katarzyna...
European Journal of Human Genetics. 30 (2022) 7 - p. 860-864 , 2022

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

15

A High-Throughput Amplicon Screen for Somatic UBA1 Variants..:

Poulter, James ; Gough, Andrew ; Isaacs, John D....
Journal of Clinical Immunology. 42 (2022) 5 - p. 947-951 , 2022

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