Original language | English |
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Pages (from-to) | 245-257 |
Journal | American Journal of Human Genetics |
Volume | 96 |
Issue number | 2 |
DOIs | |
Publication status | Published - 5 Feb 2015 |
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder. / Wortmann, Saskia B.; Zietkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B.; Gersting, Soren W.; Muntau, Ania C.; Rakovic, Aleksandar; Renkema, G. Herma; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Rubio-Gozalbo, M. Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H.; van Karnebeek, Clara; Lillquist, Yolanda; Luecke, Thomas; Ounap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N.; Vaz, Frederic M.; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A. A. P.; de Brouwer, Arjan P. M.; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A.
In: American Journal of Human Genetics, Vol. 96, No. 2, 05.02.2015, p. 245-257.Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
AU - Wortmann, Saskia B.
AU - Zietkiewicz, Szymon
AU - Kousi, Maria
AU - Szklarczyk, Radek
AU - Haack, Tobias B.
AU - Gersting, Soren W.
AU - Muntau, Ania C.
AU - Rakovic, Aleksandar
AU - Renkema, G. Herma
AU - Rodenburg, Richard J.
AU - Strom, Tim M.
AU - Meitinger, Thomas
AU - Rubio-Gozalbo, M. Estela
AU - Chrusciel, Elzbieta
AU - Distelmaier, Felix
AU - Golzio, Christelle
AU - Jansen, Joop H.
AU - van Karnebeek, Clara
AU - Lillquist, Yolanda
AU - Luecke, Thomas
AU - Ounap, Katrin
AU - Zordania, Riina
AU - Yaplito-Lee, Joy
AU - van Bokhoven, Hans
AU - Spelbrink, Johannes N.
AU - Vaz, Frederic M.
AU - Pras-Raves, Mia
AU - Ploski, Rafal
AU - Pronicka, Ewa
AU - Klein, Christine
AU - Willemsen, Michel A. A. P.
AU - de Brouwer, Arjan P. M.
AU - Prokisch, Holger
AU - Katsanis, Nicholas
AU - Wevers, Ron A.
PY - 2015/2/5
Y1 - 2015/2/5
U2 - 10.1016/j.ajhg.2014.12.013
DO - 10.1016/j.ajhg.2014.12.013
M3 - Article
VL - 96
SP - 245
EP - 257
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -