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2 research outputs found
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
Author
A Merolli
Alistair Calder
+67Â more
Angela Barnicoat
B Fischer
B Reversade
B Sturbois-Balcerzak
C Thouverey
CI Kaye
D Arikketh
D Geneviève
D Wattanasirichaigoon
Dagan Jenkins
Duangrurdee Wattanasirichaigoon
EG Bligh
Estelle Chanudet
F Majewski
G Rouser
G Tasseva
Glenn Anderson
Gudrun E Moore
Guergana Tasseva
I-P Chen
J Allanson
James Docker
JE Vance
Jean E Vance
JM Saraiva
Joaquim Sa
Jorge M Saraiva
K Saito
KH Chrzanowska
Krystyna Chrzanowska
Lionel Van Maldergem
LNY Wu
M Kingsley
M Mohamed
M Nishijimas
M Robinow
Martina Simandlová
Miho Ishida
Mina Ryten
MJ Serby
ML Warman
MO Bergo
O Kuge
O Kuge
PA Leventis
Philip L Beales
Philip Stanier
PK Schick
R Mozzi
RI Macpherson
Richard Scott
RJ Gorlin
RL Braham
S Lindsay
S Tomohiro
S-Y Morita
SJ Stone
SJ Stone
SJ Stone
SS Gerety
ST Sherry
SĂ©rgio B Sousa
T Ohsawa
TJ Carney
V Hucthagowder
WD Lenz
Z Wu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1
Author
Anna Uhrová Meszarosová
Arpád Boday
+19Â more
Eva Kantorová
Gabriela Křečková
Jana Paděrová
Jana PospĂšilová
Jana ÄŚopĂková
Jana Štěpánková
Marek Turnovec
Markéta Havlovicová
Martina Simandlová
Michaela Zelinová
Miroslava Balaščáková
Pavel Votýpka
Petra Lišková
Radka KremlĂková Pourová
Robin N. H.
Snead M. P.
VÄ›ra HoĹ™Ănová
Věra Románková
Šárka Vejvalková
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref