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1.
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Hum Mol Genet
; 27(5): 901-911, 2018 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29325022
2.
The imperative of clinical and molecular research on neonatal opioid withdrawal syndrome.
Mol Psychiatry
; 24(11): 1568-1571, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31506603
3.
Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.
J Am Heart Assoc
; 8(13): e011822, 2019 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31256702
4.
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
JAMA Netw Open
; 1(5): e182140, 2018 09 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30646163
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