Detalhe da pesquisa
1.
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Clin Genet
; 101(2): 208-213, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34708403
2.
Huntington's disease: diagnosis and management.
Pract Neurol
; 22(1): 32-41, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34413240
3.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-30712880
4.
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Clin Genet
; 83(2): 187-90, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22428906
5.
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
Am J Med Genet A
; 155A(10): 2370-80, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21910217
6.
A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.
Am J Med Genet A
; 152A(7): 1735-40, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20578133
7.
Are the UK genetic testing criteria for dementia too exclusive?
J Neurol
; 269(4): 2222-2226, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34748083
8.
Late-onset Huntington's disease associated with CAG repeat lengths of 30 and 31.
J Neurol
; 268(10): 3916-3919, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34142177
9.
Correction to: Lateonset Huntington's disease associated with CAG repeat lengths of 30 and 31.
J Neurol
; 268(10): 3920, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34191082
10.
Venous malformations of the anterior abdominal wall in blue rubber bleb naevus syndrome: implications for antenatal and intrapartum management.
Obstet Med
; 4(1): 37-8, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27579096
11.
Bipolar affective disorder associated with 11q24.2 disruption--a second report.
Am J Med Genet A
; 143A(12): 1263-7, 2007 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17497717