Detalhe da pesquisa
1.
Delineation of a region responsible for panhypopituitarism in 20p11.2.
Am J Med Genet A
; 161A(7): 1547-54, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23657910
2.
Winchester syndrome: the progression of radiological findings over a 23-year period.
Skeletal Radiol
; 40(3): 347-51, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20865259
3.
Predator dietary response to prey density variation and consequences for cestode transmission.
Oecologia
; 164(1): 129-39, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461413
4.
Evolution of a patient with Bohring-Opitz syndrome.
Am J Med Genet A
; 149A(8): 1754-7, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19606480
5.
Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
Am J Med Genet A
; 146A(10): 1325-9, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412111
6.
Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.
Eur J Med Genet
; 49(5): 431-8, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16497571
7.
The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11.
Eur J Endocrinol
; 155(1): 47-52, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16793949
8.
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Neuromuscul Disord
; 14(10): 650-8, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15351422
9.
Responses of wild small mammals to arsenic pollution at a partially remediated mining site in Southern France.
Sci Total Environ
; 470-471: 1012-22, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239822
10.
Can Body Condition and Somatic Indices be Used to Evaluate Metal-Induced Stress in Wild Small Mammals?
PLoS One
; 8(6): e66399, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824591
11.
Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.
Cancer Genet
; 205(11): 603-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23117075
12.
A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.
Mitochondrion
; 9(5): 346-52, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19563916