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1.
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Mol Genet Metab
; 129(3): 236-242, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31917109
2.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 120(4): 342-349, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28202214
3.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Neurol Genet
; 6(4): e468, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-32754643
4.
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient.
Int Urol Nephrol
; 39(3): 941-6, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-17294289
5.
Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.
J Mol Diagn
; 12(5): 725-9, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20595628
6.
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
Biochem Biophys Res Commun
; 339(3): 755-60, 2006 Jan 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-16321363
7.
Multispecialty telephone and e-mail consultation for patients with developmental disabilities in rural California.
Telemed J E Health
; 10(4): 413-21, 2004.
Artículo
en Inglés
| MEDLINE | ID: mdl-15689644
8.
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Am J Med Genet A
; 140(8): 906-9, 2006 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16532473
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