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Human Molecular Genetics|December 11, 2012
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepressionDonata Orioli, Emmanuel Compe, Tiziana Nardo, et al.
Human Molecular Genetics|January 26, 2013
Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brainMd Mahiuddin Ahmed, A Ranjitha Dhanasekaran, Suhong Tong, et al.
Human Molecular Genetics|January 4, 2013
Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosisAmanda J Barlow, Jill Dixon, Michael Dixon, et al.
Human Molecular Genetics|January 9, 2013
Role of DNA secondary structures in fragile site breakage along human chromosome 10Laura W Dillon, Levi C T Pierce, Maggie C Y Ng, et al.
Human Molecular Genetics|January 12, 2013
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophiesMika Asai-Coakwell, Lindsey March, Xiao Hua Dai, et al.
Human Molecular Genetics|January 12, 2013
A genome-wide association study of early menopause and the combined impact of identified variantsJohn R B Perry, Tanguy Corre, Tõnu Esko, et al.
Human Molecular Genetics|January 12, 2013
Accumulation of the parkin substrate, FAF1, plays a key role in the dopaminergic neurodegenerationJee-Won Sul, Min-Young Park, Juhee Shin, et al.
Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.
Human Molecular Genetics|January 22, 2013
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndromeSybille Lorenz, Christina Lissewski, Pelin O Simsek-Kiper, et al.
Human Molecular Genetics|January 22, 2013
S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCAAdarsha Koirala, Rasha S Makkia, Shannon M Conley, et al.
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