Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
3.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clin Genet
; 100(1): 14-28, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619735
4.
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Am J Med Genet A
; 167A(3): 553-62, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691408
5.
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
Mov Disord
; 33(10): 1665-1666, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288795
6.
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Mol Genet Genomic Med
; 11(6): e2151, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36760167
7.
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
Am J Med Genet A
; 155A(12): 3067-70, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002931
8.
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
Brain Dev
; 38(4): 399-406, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494205
9.
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
Eur J Hum Genet
; 21(7): 788-91, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188046
10.
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
Gene
; 526(2): 474-7, 2013 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23732293
11.
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
BMJ Open
; 3(3)2013 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23512835
12.
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Ann Neurol
; 57(3): 415-24, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15732094