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Biblio
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Melo, Uirá Souto
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Journal Article
Figueiredo T
,
Melo USouto
,
Pessoa ALuiz Santo
,
Nobrega PRibeiro
,
Kitajima JPaulo
,
Correa I
,
Zatz M
,
Kok F
,
Santos S
.
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
J Med Genet. 2014.
PubMed
Google Scholar
Gurgel-Giannetti J
,
Lynch DS
,
de Paiva ARodrigues
,
Lucato LTavares
,
Yamamoto G
,
Thomsen C
,
Basu S
,
Freua F
,
Giannetti AVarella
,
de Assis BDella Ripa
, et al.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain. 2018.
PubMed
Google Scholar
Baudic M
,
Murata H
,
Bosada FM
,
Melo USouto
,
Aizawa T
,
Lindenbaum P
,
van der Maarel LE
,
Guedon A
,
Baron E
,
Fremy E
, et al.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Nat Commun. 2024;15(1):3380.
PubMed
Google Scholar