Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36528028
2.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34186028
3.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33232677
4.
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Hum Mol Genet
; 29(20): 3388-3401, 2020 12 18.
Artigo
Inglês
| MEDLINE | ID: mdl-33073849
5.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36868207
6.
Alkylglycerol monooxygenase, a heterotaxy candidate gene, regulates left-right patterning via Wnt signaling.
Dev Biol
; 456(1): 1-7, 2019 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31398317
7.
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy.
Semin Cell Dev Biol
; 51: 73-9, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26910255
8.
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Muscle Nerve
; 54(4): 690-5, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-26934379
9.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics
; 13(2): 115-24, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22371254
10.
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC Med Genet
; 12: 87, 2011 Jun 28.
Artigo
Inglês
| MEDLINE | ID: mdl-21708040
11.
COVID-19: neonatal-perinatal perspectives.
J Perinatol
; 41(5): 940-951, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33293665
12.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Neurogenetics
; 11(4): 449-55, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20623375
13.
RAPGEF5 Regulates Nuclear Translocation of ß-Catenin.
Dev Cell
; 44(2): 248-260.e4, 2018 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29290587
14.
Ontogeny and the effects of exogenous and endogenous glucocorticoids on tight junction protein expression in ovine cerebral cortices.
Brain Res
; 1303: 15-25, 2009 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19785997