Jaya K. George‐Abraham

A progeria syndrome links DNA hypermethylation to age-related pathology

Dan Sarni, Gráinne Neary, Paula L. Carroll, Chris S. Vink et autres

gb, pl, fr, mx, us, es, no, nz (code pays fourni par la source)

A progeria syndrome links DNA hypermethylation to age-related pathology.

Dan Sarni, Gráinne Neary, Paula L. Carroll, Chris S. Vink et autres

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

Christian Kubisch, Benjamin Cogné, Rachel Rabin, E Kessler et autres

us (code pays fourni par la source)

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May et autres

de, pl, hr, us, gb, fr, it, ca, es, fi, br, nl, hu, at (code pays fourni par la source)

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

Jiwon Park, Tae‐Ik Choi, T. Kim, Yu‐Ri Lee et autres

kr, us, fr (code pays fourni par la source)

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee et autres

us, cn, it, ee, no (code pays fourni par la source)

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

Cinthya Zepeda‐Mendoza, Jordan E. Bontrager, Camille F. Fisher, Amber McDonald et autres

us (code pays fourni par la source)

A case of prolidase deficiency in a male patient

Courtney N. Haller, Jaya K. George‐Abraham, Rosemary Peterson, Lucia Z. Diaz

us (code pays fourni par la source)

Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy

Cinthya Zepeda‐Mendoza, Jordan Bontrager, Camille Fisher, Amber McDonald et autres

us (code pays fourni par la source)

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Camille Sayou, Pauline Le Tanno, Émilie Tisserant, Ange‐Line Bruel et autres

fr, it, pt, gb, cz, us, jp, ca, nl (code pays fourni par la source)

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes et autres

us, gb, au, il, br, ca, be, it, ve, es, nl, sg (code pays fourni par la source)

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

Avinash V. Dharmadhikari, Tomasz Gambin, Przemysław Szafrański, Wenjian Cao et autres

us, pl, fr, de (code pays fourni par la source)