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Search Results - Hoefs, Saskia J.
Search Results - Hoefs, Saskia J.
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NDUFA2 Complex I Mutation Leads to Leigh Disease
by
Hoefs, Saskia J.G.
,
Dieteren, Cindy E.J.
,
Distelmaier, Felix
,
Janssen, Rolf J.R.J.
,
Epplen, Andrea
,
Swarts, Herman G.P.
,
Forkink, Marleen
,
Rodenburg, Richard J.
,
Nijtmans, Leo G.
,
Willems, Peter H.
,
Smeitink, Jan A.M.
,
van den Heuvel, Lambert P.
Published in
American journal of human genetics
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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
by
Saada, Ann
,
Vogel, Rutger O.
,
Hoefs, Saskia J.
,
van den Brand, Mariël A.
,
Wessels, Hans J.
,
Willems, Peter H.
,
Venselaar, Hanka
,
Shaag, Avraham
,
Barghuti, Flora
,
Reish, Orit
,
Shohat, Mordechai
,
Huynen, Martijn A.
,
Smeitink, Jan A.M.
,
van den Heuvel, Lambert P.
,
Nijtmans, Leo G.
Published in
American journal of human genetics
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Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency
by
Hoefs, Saskia J.G
,
Dieteren, Cindy E.J
,
Rodenburg, Richard J
,
Naess, Karin
,
Bruhn, Helene
,
Wibom, Rolf
,
Wagena, Esther
,
Willems, Peter H
,
Smeitink, Jan A.M
,
Nijtmans, Leo G
,
van den Heuvel, Lambert P
Published in
Human mutation
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Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies
by
Hoefs, Saskia J.G.
,
Skjeldal, Ola H.
,
Rodenburg, Richard J.
,
Nedregaard, Bård
,
van Kaauwen, Edwin P.M.
,
Spiekerkötter, Ute
,
von Kleist-Retzow, Jürgen-Christoph
,
Smeitink, Jan A.M.
,
Nijtmans, Leo G.
,
van den Heuvel, Lambert P.
Published in
Molecular genetics and metabolism
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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease
by
HOEFS, Saskia Jg
,
VAN SPRONSEN, Francjan J
,
LENSSEN, Ellen Wh
,
NIJTMANS, Leo G
,
RODENBURG, Richard J
,
SMEITINK, Jan Am
,
VAN DEN HEUVEL, Lambert P
Published in
European journal of human genetics : EJHG
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Molecular base of biochemical complex I deficiency
by
Hoefs, Saskia J G
,
Rodenburg, Richard J
,
Smeitink, Jan A M
,
van den Heuvel, Lambert P
Published in
Mitochondrion
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