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3 research outputs found
A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex
Author
C Rosset
C-C Hung
+14 more
DA Krueger
GD Strizheva
H Li
K Mayer
K Wang
M Nellist
ME Tyburczy
N Alirezaie
NFD Ismail
O Sancak
PB Crino
S Richards
SL Dabora
TH Sasongko
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
Author
Ali M
Apak A
+57 more
Aronow ME
Benvenuto G
Blyth M
Boronat S
Caignec CL
Castro M
Choi JE
Chong-Kopera H
Clévia Rosset
Cristina Brinckmann Oliveira Netto
Cuccia V
Dabora SL
Dixon BP
Frèrebeau P
Gumbinger C
Hung CC
Ismail NFD
Jang MA
Jansen AC
Jansen FE
Joinson C
Jones AC
Jozwiak S
Knudson AG
Kothare SV
Kumasaka T
Kwiatkowska J
Kwiatkowski DJ
Langkau N
Maheshwar M
Mi CR
Muzykewicz DA
Niida Y
Northrup H
Northrup H
Osborne JP
O’Callaghan F
Patricia Ashton-Prolla
Qin W
Rendtorff ND
Roach ES
Robertson DM
Rok P
Rowley SA
Sampson JR
Sancak O
Sasongko TH
Schwartz RA
Serfontein J
Shepherd CW
Sun XF
Tian H
van Eeghena AM
Webb DW
Yamamotoa T
Yates JR
You J
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
Author
A Algra
A Gutteridge
+55 more
A McKenna
A Papadopoulou
AC Jones
AM Bolger
B Langmead
BA Staley
BP Dixon
C Kingswood
C Rosset
CC Hung
CH Hong
CJ Chu-Shore
D Ebrahimi-Fakhari
DG Isom
E Krieger
EV Ball
H Li
H Northrup
H Northrup
IE Overwater
IFAC Fokkema
J Yang
JC Lewis
JE Choi
JP Osborne
KS Au
LF Mariscal‐Mendizábal
M Nellist
M Rosner
M Słowińska
MA Knowles
ME Reyna-Fabián
ME Tyburczy
NFD Ismail
NG Caminsky
O Sancak
P Curatolo
P Kozlowski
PJ de Vries
R Ambrish
R Coevoets
S Avgeris
S Jóźwiak
S Jóźwiak
S Richards
SL Dabora
SV Kothare
T Yu
TK Harris
VB Chen
VM Rose
W Qin
Y Niida
Y Yamashita
Y Zhang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref