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1.
Evidence of digenic inheritance in Alport syndrome.
J Med Genet
; 52(3): 163-74, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25575550
2.
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
Mol Genet Genomic Med
; 8(7): e1289, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32415730
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