Detalhe da pesquisa
1.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
2.
Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle".
J Genet Couns
; 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225886
3.
Transmitter release site organization can predict synaptic function at the neuromuscular junction.
J Neurophysiol
; 119(4): 1340-1355, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357458
4.
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.
Mol Genet Genomic Med
; 12(2): e2404, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38404254
5.
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
Mol Genet Genomic Med
; 11(12): e2272, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614148
6.
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Res Sq
; 2023 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168160
7.
Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis.
Neuron
; 106(3): 357-358, 2020 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32380046