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1.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33442900
2.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34436830
3.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Article
in English
| MEDLINE | ID: mdl-34445317
4.
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Genes (Basel)
; 12(9)2021 09 12.
Article
in English
| MEDLINE | ID: mdl-34573388
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