Detalhe da pesquisa
1.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet;
108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34038740
2.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet;
101(3): 391-403, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28886341
3.
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Am J Med Genet A;
182(9): 2010-2020, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32657013
4.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet;
108(7): 1356, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34214448
5.
Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman-Diamond Syndrome?
Am J Med Genet A;
188(1): 384, 2022 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34528395
6.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet;
54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35864190