Showing results (431-440 of 11,953) with videos related to
Sort By:
Pageof 1,196
Human Molecular Genetics|January 15, 1999
An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNAS G Katz, S S Schneider, A Bartuski, et al.Human Molecular Genetics|January 15, 1999
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA geneE Campeau, L Dupuis, D Leclerc, et al.Human Molecular Genetics|February 21, 2002
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome allelesC Dombrowski, S Lévesque, M L Morel, et al.Human Molecular Genetics|February 21, 2002
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtrationAnia Koziell, Victor Grech, Sagair Hussain, et al.Human Molecular Genetics|February 21, 2002
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cellsAlice Wong, Lucia Cavelier, Heather E Collins-Schramm, et al.Human Molecular Genetics|February 21, 2002
Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from humanFrancis Clark, T A ThanarajHuman Molecular Genetics|January 7, 2006
Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophySibylle Jablonka, Kathrin Karle, Beatrice Sandner, et al.Human Molecular Genetics|January 10, 2006
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2Philipp Berger, Imre Berger, Christiane Schaffitzel, et al.Human Molecular Genetics|January 10, 2006
Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromesAnnemiek Beverdam, Peter KoopmanHuman Molecular Genetics|November 18, 1998
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformationD T Pilz, N Matsumoto, S Minnerath, et al.Pageof 1,196