Detalhe da pesquisa
1.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
2.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276004
3.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
4.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810381
5.
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Eur J Hum Genet
; 29(11): 1719-1724, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34483339
6.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Sci Adv
; 6(49)2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33268356
7.
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Eur J Hum Genet
; 20(12): 1240-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22617343