Detalhe da pesquisa
1.
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.
Hum Mutat
; 43(11): 1659-1665, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104871
2.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
3.
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Hum Genet
; 137(5): 401-411, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29796876
4.
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL.
Haematologica
; 107(8): 1989-1993, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35081686