Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
3.
Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.
J Genet Couns
; 2023 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37537905
4.
Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.
J Genet Couns
; 31(6): 1282-1289, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781721
5.
Research participant understanding and engagement in an institutional, self-consent biobank model.
J Genet Couns
; 30(1): 257-267, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32951257
6.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
HGG Adv
; 4(1): 100157, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408368