Moritz Meins

Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin

Elisabeth Klein, Mariano Rocchi, Angela Ovens‐Raeder, Nadezda Kosyakova et autres

de, it, gb (code pays fourni par la source)

Front & Back Matter

Halina Černohorská, S. Kubickova, J. Váhala, Jiřı́ Rubeš et autres

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

Horacio Astudillo‐de la Vega, Alison Trainer, Miriam Gordillo, Moira Crosier et autres

us, gb, tr, dk, it, fr, de, fi, il, nl (code pays fourni par la source)

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Thomas Liehr, Markus Stümm, R.‐D. Wegner, Samarth Bhatt et autres

de, us, cy (code pays fourni par la source)

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

Miriam Gordillo, Hugo Vega, Alison Trainer, Fajian Hou et autres

us, co, gb, jp, tr, dk, nl, it, fr, de, fi, il (code pays fourni par la source)

Severe Guillain–Barré syndrome associated with chromosome 17p11.2‐12 duplication

Christoph Münch, Jörg T. Epplen, Moritz Meins, R. Scott Meyer et autres

de, us (code pays fourni par la source)

Novel Mutations in Exon 6 of the GFAP Gene Affect a Highly Conserved IF Motif in the Rod Domain 2B and are Associated with Early Onset Infantile Alexander Disease

Hans Hartmann, Julia Herchenbach, Ulrich Stephani, Paal Ledaal et autres

de (code pays fourni par la source)

Mice deficient for RNA‐binding protein brunol1 show reduction of spermatogenesis but are fertile

Arvind Dev, Karim Nayernia, Moritz Meins, Ibrahim M. Adham et autres

de (code pays fourni par la source)

Guillain-Barré syndrome associated with chromosome 17p11.2–12 duplication

Claudia Münch, Jörg T. Epplen, Moritz Meins, Ruben Meyer et autres

at (code pays fourni par la source)

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

Kathrin Engelfried, Matthias Vorgerd, Michaela Hagedorn, Gerhard Haas et autres

de (code pays fourni par la source)

Electrophoresis of DNA in human genetic diagnostics – state‐of‐the‐art, alternatives and future prospects

René Gödde, Denis‐Amer Akkad, Larissa Arning, Gabriele Dekomien et autres

de (code pays fourni par la source)

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

Moritz Meins

de (code pays fourni par la source)