Detalhe da pesquisa
1.
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
PLoS Genet
; 17(9): e1009803, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570759
2.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
3.
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Mol Genet Metab
; 134(3): 217-222, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625341
4.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Mol Genet Metab
; 126(4): 475-488, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30691927
5.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Brain
; 143(4): e31, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227164
6.
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Am J Med Genet A
; 158A(11): 2935-40, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987394
7.
Natural history of propionic acidemia in the Amish population.
Mol Genet Metab Rep
; 33: 100936, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393899
8.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Nat Commun
; 13(1): 6664, 2022 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333305
9.
Cholbam® and Zellweger spectrum disorders: treatment implementation and management.
Orphanet J Rare Dis
; 16(1): 388, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521419
10.
Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1128: 121786, 2019 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31518899
11.
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
Ann Pediatr Cardiol
; 8(2): 153-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26085771