Detalhe da pesquisa
1.
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
Am J Med Genet A
; 182(4): 823-828, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31943778
2.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30276538
3.
The Nobel Legacy: A Journey through Chemistry Inspired by the Achievements of Nobel Laureates.
Chemistry
; 24(16): 3914-3915, 2018 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29508468
4.
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Hum Mutat
; 38(3): 260-264, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27805744
5.
Developmental trends of communicative skills in children with chromosome 14 aberrations.
Eur J Pediatr
; 176(4): 455-464, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28124115
6.
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia.
Br J Haematol
; 170(6): 826-36, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26010568
7.
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Genet Med
; 17(6): 460-6, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25232846
8.
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation.
Blood
; 121(2): 360-8, 2013 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23129323
9.
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
Neurol Sci
; 36(2): 323-30, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25213617
10.
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.
J Transl Med
; 12: 95, 2014 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-24716831
11.
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Am J Med Genet A
; 164A(12): 3142-7, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25257626
12.
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
Am J Med Genet A
; 164A(8): 2084-90, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24819041
13.
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Brain
; 136(Pt 11): 3378-94, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24056535
14.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21779178
15.
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
Am J Hum Genet
; 86(4): 639-49, 2010 Apr 09.
Artigo
Inglês
| MEDLINE | ID: mdl-20362274
16.
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.
Blood
; 118(17): 4591-4, 2011 Oct 27.
Artigo
Inglês
| MEDLINE | ID: mdl-21900200
17.
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach.
Cytotherapy
; 15(11): 1362-73, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24094488
18.
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy.
Epileptic Disord
; 15(1): 55-61, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23531706
19.
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Nat Commun
; 14(1): 1475, 2023 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36928426
20.
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Am J Hum Genet
; 85(3): 394-400, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19716111