Olivera, . et al. 0 Maria-Isabel; Gecz Kathryn; Hussain Bernard; Bhattacharya - issue: James A. B.; Bentham - volume: Jamie; Cosgrove - pages: Roger; Schwartz.
in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, . et al. 0 in a patient with severe ID - issue: - volume: - pages: .
therapeutic, . et al. 0 and molecular data from patients with GABA(A) -receptor subunit variants (GABRA1 and 1 patient without seizures (3%). We did not find a specific phenotype for any gene - issue: - volume: - pages: .
AM (-35%) of Mecp2-/y mice and to a lesser extent in the PG (-11%) and AM (-18%) in Mecp2+/- mice. We evaluated in vivo the chemoreflex sensitivity of Mecp2-/y mice using whole-body plethysmography to record the breathing of Mecp2-/y mice in normoxia and in response to acute hypoxia (10% O(2)). Our results show that the hypoxic ventilatory response is significantly increased in Mecp2-/y mice (+50%) demonstrating in vivo disturbances of the chemoafferent pathway. In conclusion, . et al. 0 our results offer new insights to better understand the mechanisms leading to autonomic dysfunction in RS.;05/12/2008;04/08/2025 08:04;04/08/2025 08:04;;82-86;;1;447;;Neurosci Lett;;;;;;;;eng;;;;;;;Place: Ireland PMID: 18834926 - issue: - volume: - pages: .
S a r n o S, . et al. 0 G r a n j e a u d S A n i k s z t e j n L . " J P h y s i o l . 2 0 2 2 M a y ; 6 0 0 ( 1 0 ) : 2 4 2 9 - 2 4 6 0 . d o i : 1 0 . 1 1 1 3 / J P 2 8 2 5 3 6 . E p u b 2 0 2 2 A p r 2 7 . " ... - issue: - volume: - pages: .
it appears that the location of the variant on the protein may be a marker of severity. Variant location may have important weight in the development of targeted therapeutics., . et al. 0 - issue: - volume: - pages: .
and a recurrent one. So far, . et al. 0 a total of 20 different TCF4 gene mutations have been reported with aim to increase the rate and specificity of PHS diagnosis.;2008-11;04/08/2025 08:04;04/08/2025 08:04;;E242-251;;11;29;;Hum Mutat;;;;;;;;eng;(c) 2008 Wiley-Liss - issue: - volume: - pages: .
Al Aqeel AI, . et al. 0 Alhashem A Doummar D Issa MY - issue: Keren B - volume: Kuechler A - pages: Horn D.