Anzahl der Einträge: 4.
Artikel
Brock, Stefanie ![ORCID 0000-0002-4137-512X](/images/orcid_16x16.gif)
,
Vanderhasselt, Tim ![ORCID 0000-0002-0511-0554](/images/orcid_16x16.gif)
,
Vermaning, Sietske,
Keymolen, Kathelijn ![ORCID 0000-0002-7349-641X](/images/orcid_16x16.gif)
,
Régal, Luc ![ORCID 0000-0001-8231-5767](/images/orcid_16x16.gif)
,
Romaniello, Romina ![ORCID 0000-0002-8709-6732](/images/orcid_16x16.gif)
,
Wieczorek, Dagmar ![ORCID 0000-0003-2812-6492](/images/orcid_16x16.gif)
,
Storm, Tim Matthias,
Schaeferhoff, Karin,
Hehr, Ute,
Kuechler, Alma,
Krägeloh-Mann, Ingeborg,
Haack, Tobias B.,
Kasteleijn, Esmee,
Schot, Rachel,
Mancini, Grazia Maria Simonetta,
Webster, Richard,
Mohammad, Shekeeb ![ORCID 0000-0003-1219-4781](/images/orcid_16x16.gif)
,
Leventer, Richard J.,
Mirzaa, Ghayda,
Dobyns, William B. ![ORCID 0000-0002-7681-2844](/images/orcid_16x16.gif)
,
Bahi-Buisson, Nadia,
Meuwissen, Marije,
Jansen, Anna C. ![ORCID 0000-0002-3835-2824](/images/orcid_16x16.gif)
und
Stouffs, Katrien ![ORCID 0000-0001-8164-5692](/images/orcid_16x16.gif)
(2020)
Defining the phenotypical spectrum associated with variants in TUBB2A.
Journal of Medical Genetics 58 (1), S. 33-40.
Volltext nicht vorhanden.
Oegema, Renske ![ORCID 0000-0002-7146-617X](/images/orcid_16x16.gif)
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Barakat, Tahsin Stefan ![ORCID 0000-0003-1231-1562](/images/orcid_16x16.gif)
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Wilke, Martina,
Stouffs, Katrien ![ORCID 0000-0001-8164-5692](/images/orcid_16x16.gif)
,
Amrom, Dina,
Aronica, Eleonora,
Bahi-Buisson, Nadia,
Conti, Valerio ![ORCID 0000-0002-8326-6378](/images/orcid_16x16.gif)
,
Fry, Andrew E. ![ORCID 0000-0001-9778-6924](/images/orcid_16x16.gif)
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Geis, Tobias,
Andres, David Gomez,
Parrini, Elena,
Pogledic, Ivana ![ORCID 0000-0001-5465-3005](/images/orcid_16x16.gif)
,
Said, Edith,
Soler, Doriette,
Valor, Luis M.,
Zaki, Maha S. ![ORCID 0000-0001-7840-0002](/images/orcid_16x16.gif)
,
Mirzaa, Ghayda,
Dobyns, William B.,
Reiner, Orly,
Guerrini, Renzo ![ORCID 0000-0002-7272-7079](/images/orcid_16x16.gif)
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Pilz, Daniela T.,
Hehr, Ute,
Leventer, Richard J.,
Jansen, Anna C. ![ORCID 0000-0002-3835-2824](/images/orcid_16x16.gif)
,
Mancini, Grazia M. S. und
Di Donato, Nataliya ![ORCID 0000-0001-9439-4677](/images/orcid_16x16.gif)
(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.
Twigg, Stephen R. F. ![ORCID 0000-0001-5024-049X](/images/orcid_16x16.gif)
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Hufnagel, Robert B.,
Miller, Kerry A.,
Zhou, Yan,
McGowan, Simon J. ![ORCID 0000-0001-9720-1914](/images/orcid_16x16.gif)
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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. ![ORCID 0000-0002-7681-2844](/images/orcid_16x16.gif)
,
Curry, Cynthia J.,
Jones, Marilyn C. und
Wilkie, Andrew O. M. ![ORCID 0000-0002-2972-5481](/images/orcid_16x16.gif)
(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. ![ORCID 0000-0002-8808-7723](/images/orcid_16x16.gif)
,
Schrock, Evelin,
Dobyns, William B. ![ORCID 0000-0002-7681-2844](/images/orcid_16x16.gif)
,
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.
Diese Liste wurde erzeugt am Fri Aug 16 23:04:20 2024 CEST.