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1.
Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessment.
J Genet Couns
; 33(1): 164-167, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38356180
2.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36651673
3.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35567594
4.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34436830
5.
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Eur J Hum Genet
; 31(7): 793-804, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36599938
6.
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Eur J Hum Genet
; 2023 Dec 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38066173
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