p.(Thr493Asn) and p.(Gly496Arg), . et al. 0 were located in the transmembrane domains S3 and S6 of Kv10.1 and one - issue: - volume: - pages: .
A l A q e e l A I, . et al. 0 A l h a s h e m A D o u m m a r D I s s a M Y - issue: K e r e n B - volume: K u e c h l e r A - pages: H o r n D .
Hum Mol Genet. 2024 Feb 28, . et al. 0 Khosrowabadi E 10.1093/hmg/ddad203 - issue: - volume: - pages: .
Beate, . et al. 0 Aida I.; Alhashem Nathalie; Doummar Samira; Issa - issue: Kiely; Keren - volume: Boris; Kuechler - pages: Delphine; Horn.
consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, . et al. 0 biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia hypotonia - issue: - volume: - pages: .
D., . et al. 0 W. T.; Chiurazzi E. C.; Kooy 1997;American Journal of Medical Genetics;;0148-7299;;;;02/04/1999;07/03/2016 15:23;07/03/2016 15:23;;221-236;;4;83;;Am. J. Med. Genet.;;;;;;;;eng;;;;;PubMed;;PMID: 10208154 - issue: L.; Willems - volume: P. J.";Eighth International workshop on the fragile X syndrome and X-linked mental retardation - pages: C.; Tranebjaerg.
and discuss differences between the IHPRF1- and IHPRF2 phenotypes. In summary, . et al. 0 we provide a comprehensive overview of IHPRF1 and IHPRF2 phenotypes based on the largest cohort of individuals reported so far and provide additional insights into the clinical phenotypes of these neurodevelopmental diseases to help improve counseling of affected families.";2018-09;23/06/2020 08:42;23/06/2020 08:42;;753-768;;9;137;;Hum. Genet.;;;;;;;;eng;;;;;PubMed;;PMID: 30167850 PMCID: PMC6671679 - issue: - volume: - pages: .
influenced overall AMF alpha diversity and differential abundance of specific taxa and families of the Glomeromycotina. Assemblages and diversity metrics at the local scale did not reliably predict those at regional scales. The amount of variation explained by soil, . et al. 0 climate - issue: - volume: - pages: .
, . et al. 0 Transdermal Metformin Therapy - An Innovative Delivery Approach! - issue: - volume: - pages: .
F., . et al. 0 A.; Belougne M.; Lacombe - issue: - volume: - pages: M.";Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome;Journal of Medical Genetics;;0022-2593;;;We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated .
Mathieu, . et al. 0 Laurent; Borgatti Marie-Christine; Nava Pradeep; Jones - issue: Yoshimi; Johnson - volume: Diana; Firth - pages: Alistair; Taylor.
Lavado, A. et al. 0 New animal models to study the role of tyrosinase in normal retinal development Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain... - issue: - volume: - pages: .