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European Journal of Human Genetics : EJHG|June 3, 1999
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?D L Stone, O P van Diggelen, J B de Klerk, et al.Environmental Science & Technology|April 4, 2023
Molecular Dynamics Simulation Prediction of the Partitioning Constants (KH, Kiw, Kia) of 82 Legacy and Emerging Organic Contaminants at the Water-Air InterfaceAmélie C Lemay, Ethan J Sontarp, Daniela Martinez, et al.Journal of Medical Genetics|April 16, 1999
Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacitiesA T Helderman-van den Enden, P D Maaswinkel-Mooij, E Hoogendoorn, et al.American Journal of Medical Genetics|August 9, 1996
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cellsE de Graaff, B B de Vries, R Willemsen, et al.Developmental Biology|January 10, 1996
Expression of the ubiquitin-conjugating DNA repair enzymes HHR6A and B suggests a role in spermatogenesis and chromatin modificationM H Koken, J W Hoogerbrugge, I Jasper-Dekker, et al.The EMBO Journal|August 3, 2001
Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexesC C Hoogenraad, A Akhmanova, S A Howell, et al.Disease Models & Mechanisms|January 12, 2021
Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in miceF W Riemslagh, E C van der Toorn, R F M Verhagen, et al.Journal of Neurology|January 1, 1987
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistryR Willemsen, J M van Dongen, E I Ginns, et al.Neurobiology of Disease|November 1, 2005
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivoE J Mientjes, I Nieuwenhuizen, L Kirkpatrick, et al.Clinical Genetics|July 31, 2007
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 geneL C P Govaerts, A E Smit, J J Saris, et al.Pageof 11