a genotype-phenotype correlation begins to emerge, . et al. 0 potentially providing prognostic information for clinical management and genetic counseling.;2024-05;04/08/2025 08:04;04/08/2025 08:04;;1439-1450;;5;65;;Epilepsia;;;;;;;;eng;© 2024 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.;;;;;;Place: United States PMID: 38491959 - issue: - volume: - pages: .
as well as the expression in human tissues, . et al. 0 suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region - issue: - volume: - pages: .
respectively. We postulate that a gene might be disrupted by one of the breakpoints., . et al. 0 - issue: - volume: - pages: .
M.", . et al. 0 associated with an ATR-X phenotype without alpha-thalassemia.;European journal of human genetics : EJHG;;1018-4813;10.1159/000472225;;"We have previously reported the isolation of a gene from Xq13 segregating in a family presenting an ""ATR-X' phenotype without alpha-thalassemia - issue: - volume: - pages: .
Susanne J. H., . et al. 0 Camille L.; Maitland-van der Zee Sammie; Anmyr Vivien; Hertting - issue: Romana Gjergja; Gonçalves - volume: Ana L. N.; Hansted - pages: Amy; Fashina.
L., . et al. 0 A. M.; Chelly with high lod scores - issue: - volume: - pages: extends over 2.1 Mb of genomic DNA. Restriction analysis of the YAC contig allowed us to map precisely the loci previously assigned to t.
Z., . et al. 0 R.; Vessey 11 to 16 years). MAIN OUTCOME MEASURES: At the group level - issue: - volume: - pages: .
the previously known genes contained in the genomic clones have been isolated. In addition, . et al. 0 we have isolated human genes that have already been described but not assigned to any chromosomal region.;1995-09;07/03/2016 15:25;07/03/2016 15:25;;617-622;;9;6;;Mamm. Genome;;;;;;;;eng;;;;;PubMed;;PMID: 8535069 - issue: - volume: - pages: .
and brain fog (48%). Severe limitations in daily life were reported in 31% of patients. Most PPCC care programs organized in-person visits with multidisciplinary teams. Diagnostic testing for respiratory and cardiac morbidity was most frequently performed and seldom abnormal. Treatment was often limited to physical therapy and psychological support. CONCLUSIONS: We found substantial heterogeneity in both the diagnostics and management of PPCC, . et al. 0 possibly explained by scarce scientific evidence and lack of standardized care. We present a list of components which future guidelines should address - issue: - volume: - pages: .
remarkably good agreement was found between the two sources of information. Digit preference was present to a limited degree. There were no important differences between the two questionnaire versions. At the individual level, . et al. 0 some misclassification was evident. For the detection of clinical infertility - issue: - volume: - pages: .
A l c a r a z G, . et al. 0 M i c h o n F X M i g n o t C L e s c a G - issue: T r a u f f l e r A - volume: B a d e n s C - pages: D e L a V a i s s i .
L., . et al. 0 D. R.";Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).;Cell;;0092-8674;10.1016/0092-8674(95)90287-2;;The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation RAD54 - issue: indicating that it could be a global transcriptional regulator. In addition to its role in the ATR-X syndrome - volume: XH2 m - pages: down-regulates expression of several genes.