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1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Article
in English
| MEDLINE | ID: mdl-36586412
2.
Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas.
Genet Med
; 25(3): 100350, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36547467
3.
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Hum Mutat
; 41(11): 1999-2011, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32906212
4.
An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.
Am J Med Genet A
; 182(10): 2399-2402, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32783369
5.
An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
bioRxiv
; 2023 Dec 12.
Article
in English
| MEDLINE | ID: mdl-38168314
6.
Warfarin-induced tissue necrosis: a case study.
Nurs Stand
; 27(9): 51-6, 2012.
Article
in English
| MEDLINE | ID: mdl-23240517
7.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Nat Genet
; 49(1): 36-45, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27841880
8.
Warfarin-induced tissue necrosis: a case study.
Nurs Stand
; 27(9): 51-56, 2012 Oct 31.
Article
in English
| MEDLINE | ID: mdl-28072357
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