Detalhe da pesquisa
1.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
BMC Neurol
; 24(1): 31, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233770
2.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
3.
Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
J Genet Couns
; 2018 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30033481
4.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Res Sq
; 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609289
5.
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697084
6.
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Mov Disord
; 24(5): 778-82, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19205071
7.
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.
Am J Med Genet A
; 149A(7): 1482-6, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19507262
8.
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
Am J Med Genet A
; 149A(11): 2469-78, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842190
9.
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Orphanet J Rare Dis
; 9: 15, 2014 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-24468074
10.
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Ann Neurol
; 58(1): 164-7, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15984017