Detalhe da pesquisa
1.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
2.
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(9): 2160-2161, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30696996
3.
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med
; 21(6): 1295-1307, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349098
4.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
5.
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Hum Genomics
; 6: 12, 2012 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23244495
6.
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Nat Genet
; 42(7): 619-25, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20512146