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1.
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Hum Mol Genet;
28(6): 952-960, 2019 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30476144
2.
Genetic counseling clinical documentation: Practice Resource of the National Society of Genetic Counselors.
J Genet Couns;
30(5): 1336-1353, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34390070
3.
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.
Am J Med Genet A;
179(7): 1139-1147, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31067005
4.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat;
38(10): 1365-1371, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28649782
5.
Patient and Family Engagement in the Design of a Mobile Health Solution for Pediatric Asthma: Development and Feasibility Study.
JMIR Mhealth Uhealth;
6(3): e68, 2018 Mar 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29567637
6.
Planning for Action: The Impact of an Asthma Action Plan Decision Support Tool Integrated into an Electronic Health Record (EHR) at a Large Health Care System.
J Am Board Fam Med;
28(3): 382-93, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25957371
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