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1.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genet Med
; 26(5): 101082, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38281098
2.
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Acta Neuropathol
; 142(2): 259-278, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34095977
3.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Am J Med Genet A
; 179(11): 2257-2262, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31390136
4.
Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
Eur J Hum Genet
; 2024 Mar 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38433263
5.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38480682
6.
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.
Diagnostics (Basel)
; 11(9)2021 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34573903
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