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Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
Genes (Basel). 2024 Feb 6;15(2):211. doi: 10.3390/genes15020211.
Genes (Basel). 2024.
PMID: 38397201
Free PMC article.
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.
de Oliveira-Sobrinho RP, Appenzeller S, Holanda IP, Heleno JL, Jorente J, On Behalf Of The Rare Genomes Project Consortium, Vieira TP, Steiner CE.
de Oliveira-Sobrinho RP, et al. Among authors: heleno jl.
Genes (Basel). 2024 Apr 19;15(4):513. doi: 10.3390/genes15040513.
Genes (Basel). 2024.
PMID: 38674447
Free PMC article.
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Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.
Pires de Oliveira-Sobrinho R, Bispo LM, Heleno JL, Rojas Ayala FR, Reis F, Vieira TP, Steiner CE.
Pires de Oliveira-Sobrinho R, et al. Among authors: heleno jl.
Mol Syndromol. 2024 Jun;15(3):225-231. doi: 10.1159/000535240. Epub 2024 Jan 15.
Mol Syndromol. 2024.
PMID: 38841325
Free PMC article.
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