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3 research outputs found
Screening of GJB6
Author
Al Kowari MK
Asma A
+3Â more
Mahasneh AA
Matos TD
Tabatabaiefar MA
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
Author
A Simonati
AH Lebrun
+21Â more
C Bessa
C Mancini
I Jarvela
M Savukoski
M Segal-Salto
MK Al-Kowari
MS Perez-Poyato
N Pineda-Trujillo
P Santavuori
P Santavuori
S Richards
SC Ren
SE Haddad
SE Mole
SE Mole
SE Mole
SJ Moore
V Holmberg
V Warrier
W Xin
Y Niida
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
Author
A Grubman
A Jilani
+153Â more
A Kolicheski
A Lyly
A Mamo
A Moharir
A Schulz
A Simonati
AB Mukherjee
AH Futerman
AH Lebrun
AL Fabritius
AL Getty
AM Arranz
B Azad
B De Silva
B Grunewald
C Bessa
C Burd
C Mancini
C Stark
C Staudt
C von Schantz
CJ Loscher
CM Deus
D Baek
D Gilliam
D Marotta
D Mellacheruvu
DE Sleat
DE Sleat
DF Zielinska
DN Palmer
E Friedmann
E Savchenko
E Scifo
EG Geier
EL Huttlin
EL Huttlin
F Jules
G Gomez-Giro
G Heinrich
G Liang
G Modica
G Ricci
G Setty
G von Heijne
GW Anderson
H Jiang
H Larkin
H Leinonen
H Xicoy
HDE Booth
HL Best
IA Cismondi
IH Still
IS Amorim
J Adams
J Isosomppi
J Lange
J Radke
J Salazar
J SchrĂder
J TyynelÀ
J TyynelÀ
J Vesa
JA Martina
JF Staropoli
JM Holopainen
JP Morgan
JR Ostergaard
JS Park
JW Song
K Kollmann
K Mizukami
K Uusi-Rauva
KN Russell
KS Linterman
L Eichinger
L Ge
L Parviainen
L Ă berg
M Fernandez-Monreal
M Kousi
M Kousi
M Palmieri
M Palmieri
M Sardiello
M Savukoski
M Savukoski
MA Lancaster
MK Al-Kowari
ML Schmiedt
ML Schmiedt
MS Goo
N Cannelli
N Perentos
N Perentos
N Pineda-Trujillo
N Plotegher
NA Villani
ND Udeshi
NL Mitchell
O Heinonen
O Kopra
P Casado
P Fey
P Ghosh
P Santavuori
P Santavuori
P Santavuori
PJ Houweling
PPY Lie
Q Du
R Kohan
RD Jolly
RE Williams
RJ Huber
RJ Huber
RJ Huber
RJ Huber
RM Ewing
S Basu
S Doccini
S Fishilevich
S Luo
S Mathavarajah
S Parvin
SA Davis
SA Melville
SA Wagner
SE Haddad
SJ Kim
SJ Moore
SM Ferguson
SM Hughes
T Autti
T Braulke
T Frugier
T Klockars
T Klockars
T Virmani
V Akimov
V Holmberg
V Holmberg
V Warrier
W Kim
W Li
W Xin
XR Mao
XT Ren
Y Singh
YC Liao
YH Qureshi
ZZ Zhou
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
No full text
