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1.
Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Am J Med Genet A
; 185(10): 3136-3145, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34223693
2.
Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Mol Genet Genomic Med
; 7(2): e00507, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30614210
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