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Scientific Reports|April 15, 2018
Defective immuno- and thymoproteasome assembly causes severe immunodeficiencyIrina Treise, Eva M Huber, Tanja Klein-Rodewald, et al.Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 14, 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS familiesKathrin Müller, David Brenner, Patrick Weydt, et al.Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.Nature Genetics|February 19, 2013
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertensionFelix Beuschlein, Sheerazed Boulkroun, Andrea Osswald, et al.The New England Journal of Medicine|February 28, 2014
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndromeFelix Beuschlein, Martin Fassnacht, Guillaume Assié, et al.American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 28, 2016
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutationSibylle Sabrautzki, Michael A Sandholzer, Bettina Lorenz-Depiereux, et al.Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.Pageof 29