Detalhe da pesquisa
1.
Recommendations for occupational therapy interventions for adults with ADHD: a consensus statement from the UK adult ADHD network.
BMC Psychiatry
; 21(1): 72, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33541313
2.
Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
Am J Med Genet A
; 176(5): 1238-1244, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681091
3.
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.
Am J Med Genet A
; 176(7): 1578-1586, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736964
4.
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
Am J Med Genet A
; 170A(2): 476-481, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471105
5.
A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.
J Hum Genet
; 60(6): 313-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25761574
6.
Pneumothorax from subpleural blebs-a new association of sotos syndrome?
Am J Med Genet A
; 164A(5): 1222-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458726
7.
Adaptation to culture of human embryonic stem cells and oncogenesis in vivo.
Nat Biotechnol
; 25(2): 207-15, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17287758
8.
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
J Pediatr Endocrinol Metab
; 32(9): 959-967, 2019 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301676
9.
Clinical and molecular characterization of the first familial report of 1p32 microdeletion.
Clin Dysmorphol
; 27(2): 36-41, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240611
10.
Autism and heritable bone fragility: A true association?
Bone Rep
; 8: 156-162, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29955634
11.
Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells.
Nat Biotechnol
; 22(1): 53-4, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14661028
12.
Inherited duplication of the short arm of chromosome 18p11.32-p11.31 associated with developmental delay/intellectual disability.
Clin Dysmorphol
; 25(1): 19-22, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26287558
13.
Reprogramming in inter-species embryonal carcinoma-somatic cell hybrids induces expression of pluripotency and differentiation markers.
Cloning Stem Cells
; 5(4): 339-54, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14733752
14.
Fluorescence in situ hybridisation (FISH) in histologically challenging conjunctival melanocytic lesions.
Br J Ophthalmol
; 97(1): 40-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23137666
15.
Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.
Clin Dysmorphol
; 26(1): 38-40, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753653
16.
Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion syndrome with concomitant 5p15 duplication.
J Pediatr Genet
; 1(4): 247-52, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625832
17.
Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.
Clin Dysmorphol
; 24(4): 151-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26267847
18.
Multiplex fluorescence in situ hybridization identifies novel rearrangements of chromosomes 6, 15, and 18 in primary uveal melanoma.
Exp Eye Res
; 83(3): 554-9, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16684523
19.
Risk ranking of bioaccessible metals from fly ash dissolved in simulated lung and gut fluids.
Environ Sci Technol
; 39(19): 7749-56, 2005 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16245854
20.
Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells.
Hum Mol Genet
; 14(21): 3129-40, 2005 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16159889