Detalhe da pesquisa
1.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
2.
Successful pulmonary embolectomy in a 4-year-old girl with antithrombin III deficiency.
Pediatr Cardiol
; 31(5): 711-3, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20143056
3.
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Eur J Med Genet
; 63(12): 104064, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998064
4.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Eur J Med Genet
; 60(11): 595-604, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807864
5.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Eur J Med Genet
; 55(8-9): 490-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22561202