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Journal Article
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
Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J.
(2017).
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Mol. Genet. Genom. Med., 5 (5).
S. 531 - 553.
HOBOKEN:
WILEY.
ISSN 2324-9269