Detalhe da pesquisa
1.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
J Med Genet
; 59(6): 544-548, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963046
2.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
3.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet
; 56(10): 701-710, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451536
4.
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Genet Med
; 21(9): 2081-2091, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837697
5.
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Am J Med Genet A
; 179(9): 1884-1894, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313512
6.
1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.
Am J Med Genet A
; 176(9): 2004-2008, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079626
7.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling.
Biol Psychiatry
; 87(2): 100-112, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443933
8.
STAR syndrome: a further case and the first report of maternal mosaicism.
Clin Dysmorphol
; 26(3): 157-160, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28225384
9.
A novel technique for teaching the brachial plexus.
Clin Teach
; 8(3): 196-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21851569
10.
Kapur-Toriello syndrome: a further case report and expansion of the phenotype.
Clin Dysmorphol
; 24(4): 170-2, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26049588