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.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
3.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
4.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Int J Mol Sci
; 24(18)2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762546
5.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 24(10): 2051-2064, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833929
6.
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.
Haematologica
; 107(4): 887-898, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092059
7.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med
; 25(11): 100962, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658852
8.
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.
Genet Med
; 24(3): 754-756, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906509
9.
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
Clin Genet
; 101(1): 144-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708400
10.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503210
11.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Front Cell Dev Biol
; 12: 1321282, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38505260
12.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Eur J Hum Genet
; 31(2): 223-230, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446894
13.
Leigh syndrome associated with TRMU gene mutations.
Mol Genet Metab Rep
; 26: 100690, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33365252
14.
16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
Parkinsonism Relat Disord
; 103: 112-114, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36096018