E-LIB Suche - Ergebnisse für: Pagnamenta, AT

1

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, AT ; Camps, C ; Giacopuzzi, E...
doi:10.1186/s13073-023-01240-0. , 2023

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

2

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, A ; Zaki, MS ; Al-Owain, M...
https://openaccess.sgul.ac.uk/id/eprint/115885/1/fcad222.pdf. , 2023

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

3

Brain monoamine vesicular transport disease caused by homoz..:

Saida, K ; Maroofian, R ; Sengoku, T...
https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdf. , 2023

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

4

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, R ; Medico-Salsench, E ; Nikoncuk, A...
https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf. , 2023

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

5

The prevalence and phenotypic range associated with biallel..:

Pagnamenta, AT ; Belles, RS ; Salbert, BA...
https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf. , 2023

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

6

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, AT ; Camps, C ; Giacopuzzi, E...
https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdf. , 2023

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

7

Venus: Elucidating the impact of amino acids variants on pr..:

Ferla, MP ; Pagnamenta, AT ; Koukouflis, L..
doi:10.1016/j.jmb.2022.167567. , 2022

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

8

The Bartter-Gitelman spectrum: 50-year follow-up with revis..:

Stevenson, M ; Pagnamenta, AT ; Mack, HG...
doi:10.1210/jendso/bvac079. , 2022

Link: https://doi.org/10.1210/..

9

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revis..:

Stevenson, M ; Pagnamenta, AT ; Mack, HG...
issn:2472-1972. , 2022

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

10

Variable skeletal phenotypes associated with biallelic vari..:

Pagnamenta, AT ; Diaz-Gonzalez, F ; Banos-Pinero, B...
https://discovery.ucl.ac.uk/id/eprint/10157733/1/947.full.pdf. , 2022

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

11

Variable skeletal phenotypes associated with biallelic vari..:

Pagnamenta, AT ; Diaz-Gonzalez, F ; Banos-Pinero, B...
https://openaccess.sgul.ac.uk/id/eprint/113896/1/jmedgenet-2021-108027.full.pdf. , 2022

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

12

Presynaptic congenital myasthenic syndrome due to three nov..:

Rodríguez Cruz, PM ; Hughes, I ; Manzur, A...
doi:10.1016/j.nmd.2020.10.006. , 2021

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

13

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, H ; Hannan, SB ; Dyack, S...
https://openaccess.sgul.ac.uk/id/eprint/113389/1/1-s2.0-S000292972100183X-main.pdf. , 2021

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

14

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, AT ; Kaiyrzhanov, R ; Zou, Y...
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf. , 2021

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

15

Biparental inheritance of mitochondrial DNA revisited:

Pagnamenta, AT ; Wei, W ; Rahman, S.
https://discovery.ucl.ac.uk/id/eprint/10128999/1/Rahman_BIPARENTAL_REVISITED_FINAL_resubmission_clean.pdf. , 2021

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