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.
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.