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: .
G i r a r d N, . et al. 0 D e l e p i n e M V i l l a r d L . " E u r J H u m G e n e t . 2 0 1 4 M a r ; 2 2 ( 3 ) : 3 6 3 - 8 . d o i : 1 0 . 1 0 3 8 / e j h g . 2 0 1 3 . 1 3 5 . E p u b 2 0 1 3 J u n 1 2 . " ... - issue: - volume: - pages: .
and can thus be applied to a large number of patients at a low cost in any given laboratory., . et al. 0 - issue: - volume: - pages: .
K., . et al. 0 K.";Structures and the cystathionine beta synthetase (CBS) gene. The human homologues of all four genes map to human chromosome 21 but are not clustered; APP and E4TF1-60 map within 21q21 - issue: - volume: - pages: .
and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome., . et al. 0 - issue: - volume: - pages: .
the introns are compressed only five- to eightfold. These size differences were compared with those for a number of previously reported Fugu genes, . et al. 0 levels of compaction of Fugu genes are consistent with the isochore locations of the human homologues.";21/01/1999;07/03/2016 15:23;07/03/2016 15:23;;211-223;;2;226;;Gene;;;;;;;;eng;;;;;PubMed;;PMID: 9931491 - issue: - volume: - pages: .
Daniel G., . et al. 0 John; Clarke Michele; Renieri - issue: - volume: - pages: the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipa.