Anzahl der Einträge: 2.
2020
Lessel, Davor ,
Zeitler, Daniela M.,
Reijnders, Margot R. F.,
Kazantsev, Andriy,
Hassani Nia, Fatemeh,
Bartholomäus, Alexander,
Martens, Victoria,
Bruckmann, Astrid,
Graus, Veronika,
McConkie-Rosell, Allyn,
McDonald, Marie,
Lozic, Bernarda,
Tan, Ee-Shien,
Gerkes, Erica,
Johannsen, Jessika,
Denecke, Jonas,
Telegrafi, Aida,
Zonneveld-Huijssoon, Evelien,
Lemmink, Henny H.,
Cham, Breana W. M.,
Kovacevic, Tanja,
Ramsdell, Linda,
Foss, Kimberly,
Le Duc, Diana,
Mitter, Diana,
Syrbe, Steffen,
Merkenschlager, Andreas,
Sinnema, Margje,
Panis, Bianca,
Lazier, Joanna,
Osmond, Matthew,
Hartley, Taila,
Mortreux, Jeremie,
Busa, Tiffany,
Missirian, Chantal,
Prasun, Pankaj,
Lüttgen, Sabine,
Mannucci, Ilaria,
Lessel, Ivana ,
Schob, Claudia,
Kindler, Stefan,
Pappas, John ,
Rabin, Rachel,
Willemsen, Marjolein,
Gardeitchik, Thatjana,
Löhner, Katharina,
Rump, Patrick,
Dias, Kerith-Rae,
Evans, Carey-Anne,
Andrews, Peter Ian,
Roscioli, Tony,
Brunner, Han G.,
Chijiwa, Chieko,
Lewis, M. E. Suzanne ,
Jamra, Rami Abou,
Dyment, David A.,
Boycott, Kym M.,
Stegmann, Alexander P. A.,
Kubisch, Christian,
Tan, Ene-Choo,
Mirzaa, Ghayda M.,
McWalter, Kirsty,
Kleefstra, Tjitske,
Pfundt, Rolph,
Ignatova, Zoya,
Meister, Gunter und
Kreienkamp, Hans-Jürgen
(2020)
Germline AGO2 mutations impair RNA interference and human neurological development.
Nature Communications 11 (1).
Volltext nicht vorhanden.
2012
Lines, Matthew A.,
Huang, Lijia,
Schwartzentruber, Jeremy ,
Douglas, Stuart L.,
Lynch, Danielle C.,
Beaulieu, Chandree,
Guion-Almeida, Maria Leine,
Zechi-Ceide, Roseli Maria ,
Gener, Blanca,
Gillessen-Kaesbach, Gabriele,
Nava, Caroline,
Baujat, Geneviève,
Horn, Denise,
Kini, Usha,
Caliebe, Almuth,
Alanay, Yasemin,
Utine, Gulen Eda,
Lev, Dorit,
Kohlhase, Jürgen,
Grix, Arthur W.,
Lohmann, Dietmar R. ,
Hehr, Ute,
Böhm, Detlef,
Majewski, Jacek,
Bulman, Dennis E.,
Wieczorek, Dagmar und
Boycott, Kym M.
(2012)
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly.
The American Journal of Human Genetics 90 (2), S. 369-377.
Volltext nicht vorhanden.
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