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Search Results - Sumathipala, Dulika Sanjeewani
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A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
by
Misceo, Doriana
,
Lirussi, Lisa
,
Strømme, Petter
,
Sumathipala, Dulika
,
Guerin, Andrea
,
Wolf, Nicole I
,
Server, Andres
,
Stensland, Maria
,
Dalhus, Bjørn
,
Tolun, Aslıhan
,
Kroes, Hester Y
,
Nyman, Tuula A
,
Nilsen, Hilde L
,
Frengen, Eirik
Published in
Brain (London, England : 1878)
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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
by
Sumathipala, Dulika
,
Strømme, Petter
,
Fattahi, Zohreh
,
Lüders, Torben
,
Sheng, Ying
,
Kahrizi, Kimia
,
Einarsen, Ingunn Holm
,
Sloan, Jennifer L
,
Najmabadi, Hossein
,
van den Heuvel, Lambert
,
Wevers, Ron A
,
Guerrero-Castillo, Sergio
,
Mørkrid, Lars
,
Valayannopoulos, Vassili
,
Backe, Paul Hoff
,
Venditti, Charles P
,
van Karnebeek, Clara D
,
Nilsen, Hilde
,
Frengen, Eirik
,
Misceo, Doriana
Published in
Brain (London, England : 1878)
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LossofCBY1resultsinaciliopathycharacterizedbyfeatures ofJoubert syndrome
by
Epting, Daniel
,
Senaratne, Lokuliyanage Dona Samudita
,
Ott, Elisabeth
,
Holmgren, Asbjørn
,
Sumathipala, Dulika Sanjeewani
,
Larsen, Selma Mujezinovic
,
Wallmeier, Julia
,
Bracht, Diana
,
Frikstad, Kari-Anne
,
Crowley, Suzanne
,
SIKIRIC, ALMA
,
Barøy, Tuva
,
Käsmann‐Kellner, Barbara
,
Decker, Eva
,
Decker, Christian
,
Bachmann, Nadine
,
Patzke, Sebastian
,
Phelps, Ian G
,
Katsanis, Nicholas
,
Giles, Rachel
,
Schmidts, Miriam
,
Zucknick, Manuela
,
Lienkamp, Soeren S
,
Omran, Heymut
,
Davis, Erica E
,
Doherty, Dan
,
Strømme, Petter
,
Frengen, Eirik
,
Bergmann, Carsten
,
Misceo, Doriana
Published in
Human mutation
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