Detalhe da pesquisa
1.
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Brain
; 146(1): 387-404, 2023 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35802027
2.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
; 43(2): 189-199, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34859533
3.
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
medRxiv
; 2024 Jan 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38260255
4.
Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
Am J Med Genet A
; 161A(9): 2294-9, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23897859
5.
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31836586
6.
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Cold Spring Harb Mol Case Stud
; 4(5)2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30054298