Anzahl der Einträge: 3.
2020
Oegema, Renske ,
Barakat, Tahsin Stefan ,
Wilke, Martina,
Stouffs, Katrien ,
Amrom, Dina,
Aronica, Eleonora,
Bahi-Buisson, Nadia,
Conti, Valerio ,
Fry, Andrew E. ,
Geis, Tobias,
Andres, David Gomez,
Parrini, Elena,
Pogledic, Ivana ,
Said, Edith,
Soler, Doriette,
Valor, Luis M.,
Zaki, Maha S. ,
Mirzaa, Ghayda,
Dobyns, William B.,
Reiner, Orly,
Guerrini, Renzo ,
Pilz, Daniela T.,
Hehr, Ute,
Leventer, Richard J.,
Jansen, Anna C. ,
Mancini, Grazia M. S. und
Di Donato, Nataliya
(2020)
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Nature Reviews Neurology 16 (11), S. 618-635.
Volltext nicht vorhanden.
2016
Twigg, Stephen R. F. ,
Hufnagel, Robert B.,
Miller, Kerry A.,
Zhou, Yan,
McGowan, Simon J. ,
Taylor, John,
Craft, Jude,
Taylor, Jenny C.,
Santoro, Stephanie L.,
Huang, Taosheng,
Hopkin, Robert J.,
Brady, Angela F.,
Clayton-Smith, Jill,
Clericuzio, Carol L.,
Grange, Dorothy K.,
Groesser, Leopold,
Hafner, Christian,
Horn, Denise,
Temple, I. Karen,
Dobyns, William B. ,
Curry, Cynthia J.,
Jones, Marilyn C. und
Wilkie, Andrew O. M.
(2016)
A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
The American Journal of Human Genetics 98 (6), S. 1256-1265.
Volltext nicht vorhanden.
Di Donato, N.,
Neuhann, T.,
Kahlert, A.-K.,
Klink, B.,
Hackmann, K.,
Neuhann, I.,
Weber, Bernhard H. F. ,
Schrock, Evelin,
Dobyns, William B. ,
Bier, Andrea und
Rump, Andreas
(2016)
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Journal of Medical Genetics 53 (6), S. 419-425.
Volltext nicht vorhanden.
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