В геноме человека широко представлены повторяющиеся нуклеотидные
последовательности (повторы). Их доля, по оценкам разных авторов, может …

Methods Cell culture. U2OS (ATCC, HTB-96), HEK293T (ATCC, CRL-11268) and HeLa
(EMBL, Heidelberg, Germany) cells were maintained in Dulbecco's Modified Eagle Medium …

Facioscapulohumeral muscular dystrophy (FSHD) is a rare autosomal dominant condition.
FSHD, like all types of muscular dystrophy, is characterized by severe muscle degeneration …

Die klinische Symptomatik verschiedener erblicher Muskelerkrankungen verläuft oft
erstaunlich ähnlich mit Muskelschwäche und-schwund als den hervorstechenden …

Résumé Introduction Le diagnostic de myopathie facioscapulo-humérale de type 1 (FSHD1)
repose sur un examen clinique évocateur et la présence d'une contraction pathogène des …

Facioscapulohumeral muscular dystrophy (FSHD) is mainly characterized by progressive
and often asymmetric weakness and wasting of muscles of the face, shoulder girdle, and …

In this PhD thesis I focused on molecular genetic diagnostics of Duchenne and Becker
muscular dystrophy, facioscapulohumeral muscular dystrophy and limb-girdle muscular …

Facioscapulohumeral Muscular Dystrophy: Genetics - Upadhyaya - Major Reference Works -
Wiley Online Library Skip to Article Content Skip to Article Information Wiley Online Library …

An overview of existing clinical severity scales and genotype-phenotype studies in FSHD Page
70 70 WIBSB-2018 DOI 10.18699/WIBSB-2018-55 An overview of existing clinical severity …

To determine how much of the clinical variability in facioscapulohumeral muscular dystrophy
type 1 can be explained by the D4Z4 repeat array size, D4Z4 methylation and familial …