we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis. RESULTS: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, . et al. 0 infantile intractable seizures and autistic features - issue: - volume: - pages: ACTL6B plays a crucial role in ribosome biogenesis.
which has implications for statistical power. For detection of clinical infertility (no conception within 12 months), . et al. 0 the sensitivity was in the range 67%-91% social class - issue: - volume: - pages: with a long duration of recall.
M a n c i n i J, . et al. 0 V i l l a r d L . " E u r J N e u r o s c i . 2 0 0 7 A p r ; 2 5 ( 7 ) : 1 9 1 5 - 2 2 . d o i : 1 0 . 1 1 1 1 / j . 1 4 6 0 - 9 5 6 8 . 2 0 0 7 . 0 5 4 6 6 . x . " R o u x J C E u r J N e u r o s c i 2 0 0 7 1 9 / 0 4 / 2 0 0 7 1 0 . 1 1 1 1 / j . 1 4 6 0 - 9 5 6 8 . 2 0 0 7 . 0 5 4 6 6 . x - issue: - volume: - pages: .
Gaetan, . et al. 0 Dana; Licchetta Meena; Lowenstein Christelle; Jung - issue: Roberta; den Hollander - volume: Nicolette S.; Marjanovic - pages: Julia; Isidor.
B., . et al. 0 A.; Ayrault N.; Moraine - issue: - volume: - pages: identifying a 17 cM interval. This result suggests a new gene localization in the proxim.
we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, . et al. 0 21 new and three previously described 96%) - issue: as DEE is more rep - volume: - pages: and dysmorphisms (6/24.
U., . et al. 0 J.; Odent M.; Till and constipation or anal malformations. In a linkage analysis - issue: congenital hypotonia - volume: macrocephaly - pages: A.; Moraine.