Detalhe da pesquisa
1.
Tumor burden of persistent disease in patients with differentiated thyroid cancer: correlation with postoperative risk-stratification and impact on outcome.
BMC Cancer
; 20(1): 765, 2020 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799836
2.
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Am J Med Genet A
; 167(6): 1275-84, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900228
3.
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Am J Med Genet A
; 164A(9): 2335-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24891185
4.
Fetal phenotype associated with the 22q11 deletion.
Am J Med Genet A
; 164A(11): 2724-31, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111715
5.
Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Am J Ophthalmol
; 237: 122-129, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942114
6.
[Big increase in the frequency of pediatric emergencies]. / Grosse augmentation de la fréquentation des urgences pédiatriques.
Rev Med Suisse
; 12(504): 287, 2016 Feb 03.
Artigo
em Francês
| MEDLINE | ID: mdl-27000005
7.
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Eur J Hum Genet
; 22(4): 471-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24129437
8.
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Eur J Hum Genet
; 21(6): 602-12, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23073310
9.
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.
Eur J Med Genet
; 55(11): 625-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22922660
10.
A familial syndromal form of omphalocele.
Eur J Med Genet
; 54(3): 337-40, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21333766