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1.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30245030
2.
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.
JIMD Rep
; 55(1): 38-43, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32905087
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