Detalhe da pesquisa
1.
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nat Rev Genet
; 19(10): 649-666, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29995837
2.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Hum Genet
; 139(5): 575-592, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32193685
3.
Development, behaviour and autism in individuals with SMC1A variants.
J Child Psychol Psychiatry
; 60(3): 305-313, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30295920
4.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29897170
5.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28548707
6.
Behaviour in Cornelia de Lange syndrome: a systematic review.
Dev Med Child Neurol
; 59(4): 361-366, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27988966