E-LIB Suche - Ergebnisse für: SULTAN, T

1

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro V ; Maroofian R ; Zaki M. S...
info:eu-repo/semantics/altIdentifier/pmid/38118446. , 2024

Link: https://hdl.handle.net/1..

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

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, R ; Rad, A ; Lin, S-J...
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf. , 2023

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

4

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, V ; Maroofian, R ; Zaki, MS...
https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2.0-S0002929723004305-main.pdf. , 2023

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

5

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, A ; Lau, T ; Tajsharghi, H...
https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdf. , 2023

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

6

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, A ; Lau, T ; Tajsharghi, H...
https://eprints.whiterose.ac.uk/207906/1/awad039.pdf. , 2023

Link: https://eprints.whiteros..

7

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, E ; Lin, SJ ; Rocca, C...
https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdf. , 2022

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

8

Early-onset phenotype of bi-allelic GRN mutations:

Neuray, C ; Sultan, T ; Alvi, JR...
https://discovery.ucl.ac.uk/id/eprint/10124256/5/Houlden_Early-onset%20phenotype%20of%20bi-allelic%20GRN%20mutations.pdf. , 2021

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

9

Inhibition of G-protein signalling in cardiac dysfunction o..:

De Nittis, P ; Efthymiou, S ; Sarre, A...
https://openaccess.sgul.ac.uk/id/eprint/112612/1/jmedgenet-2020-107015.full.pdf. , 2021

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

10

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, M ; Maroofian, R ; Çavdarlı, B...
http://edoc.mdc-berlin.de/20487/1/20487oa.pdf. , 2021

Link: http://edoc.mdc-berlin.d..

11

Expanding the phenotype of PIGS-associated early onset epil..:

Efthymiou, S ; Dutra-Clarke, M ; Maroofian, R...
https://openaccess.sgul.ac.uk/id/eprint/112824/1/epi.16801.pdf. , 2021

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

12

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakis..:

Bibi, F ; Ullah, A ; Bourinaris, T...
https://discovery.ucl.ac.uk/id/eprint/10128343/3/Efthymiou_Tay%20sachs%20Disease%20Two%20novel%20rare%20Hexa%20mutations%20from%20Pakistan%20and%20Morocco.pdf. , 2021

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

13

Supraclavicular Artery Flap "its weightage in reconstructin..:

CHAUDHRY, Z A ; BASHIR, M M ; SULTAN, T.
http://annalskemu.org/journal/index.php/annals/article/view/4777/2660. , 2021

Link: http://annalskemu.org/jo..

14

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, M ; Maroofian, R ; Çavdarlı, B...
https://openaccess.sgul.ac.uk/id/eprint/113472/1/s41436-021-01260-4.pdf. , 2021

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

15

Biallelic and monoallelic variants in PLXNA1 are implicated..:

Dworschak, GC ; Punetha, J ; Kalanithy, JC...
https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdf. , 2021

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