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2020
Farooq, Muhammad, Lindbaek, Louise, Krogh, Nicolai 
ORCID: 0000-0001-8870-7091, Doganli, Canan, Keller, Cecilie, Monnich, Maren, Goncalves, Andre Bras, Sakthivel, Srinivasan, Mang, Yuan, Fatima, Ambrin, Andersen, Vivi Sogaard, Hussain, Muhammad S., Eiberg, Hans, Hansen, Lars, Kjaer, Klaus Wilbrandt, Gopalakrishnan, Jay, Pedersen, Lotte Bang, Mollgard, Kjeld, Nielsen, Henrik, Baig, Shahid M., Tommerup, Niels, Christensen, Soren Tvorup and Larsen, Lars Allan
(2020).
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Nat. Commun., 11 (1).
BERLIN:
NATURE RESEARCH.
ISSN 2041-1723
2016
Gardella, Elena ORCID: 0000-0002-7138-6022, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels ORCID: 0000-0003-2304-0112, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor ORCID: 0000-0002-6035-6581 and Weber, Yvonne G.
(2016).
Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation.
Ann. Neurol., 79 (3).
S. 428 - 437.
HOBOKEN:
WILEY.
ISSN 1531-8249
Gardella, Elena ORCID: 0000-0002-7138-6022, Beniczky, Sandor ORCID: 0000-0002-6035-6581, Moller, Rikke S., Becker, Felicitas, Lemke, Johannes R., Syrbe, Steffen, Eiberg, Hans, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Gellert, Pia, Dahl, Hans Atli, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Heron, Sarah E., Dibbens, Leanne M., Hjalgrim, Helle, Lerche, Holger and Weber, Yvonne G.
(2016).
PKD or Not PKD: That Is the Question Reply.
Ann. Neurol., 80 (1).
S. 168 - 171.
HOBOKEN:
WILEY.
ISSN 1531-8249