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Neurology|June 19, 2016
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 familiesAnne S Soehn, Tim W Rattay, Stefanie Beck-Wödl, et al.
European Journal of Human Genetics : EJHG|January 27, 2025
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic settingAida M Bertoli-Avella, Mandy Radefeldt, Ruslan Al-Ali, et al.
Nano Letters|February 1, 2013
Tuning the magnetic properties of metal oxide nanocrystal heterostructures by cation exchangeMykhailo Sytnyk, Raimund Kirchschlager, Maryna I Bodnarchuk, et al.
Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.
International Journal of Hygiene and Environmental Health|May 17, 2011
Prenatal and postnatal tobacco smoke exposure and development of insulin resistance in 10 year old childrenElisabeth Thiering, Irene Brüske, Jürgen Kratzsch, et al.
Environment International|November 21, 2024
Exploring environmental modifiers of LRRK2-associated Parkinson's disease penetrance: An exposomics and metagenomics pilot study on household dustBegoña Talavera Andújar, Sandro L Pereira, Susheel Bhanu Busi, et al.
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