Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clin Genet
; 102(3): 182-190, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662002
3.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
4.
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Front Endocrinol (Lausanne)
; 13: 928284, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35846276
5.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Eur J Hum Genet
; 23(9): 1165-70, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424711
6.
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
Eur J Med Genet
; 54(2): 177-80, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21167329