Detalhe da pesquisa
1.
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Hum Genet
; 2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952035
2.
Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
Am J Med Genet A
; 188(7): 2217-2225, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384273
3.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
4.
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.
Front Genet
; 14: 1116919, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37415602
5.
KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
Genes (Basel)
; 15(1)2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254937
6.
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature.
Front Genet
; 13: 1007046, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36276984
7.
The effect of gender on student self-assessment skills in operative preclinical dentistry.
J Dent Educ
; 85(9): 1511-1517, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33990132
8.
Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.
Curr Opin Psychiatry
; 32(2): 55-59, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30601169