Detalhe da pesquisa
1.
Mosaic structural variation in children with developmental disorders.
Hum Mol Genet
; 24(10): 2733-45, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634561
2.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
3.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Nat Genet
; 38(8): 910-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845400
4.
How to use microarray comparative genomic hybridisation to investigate developmental disorders.
Arch Dis Child Educ Pract Ed
; 100(1): 24-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189327
5.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Brain
; 136(Pt 10): 3106-18, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030952
6.
Protocol for combined N-of-1 trials to assess cerebellar neurostimulation for movement disorders in children and young adults with dyskinetic cerebral palsy.
Res Sq
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645256
7.
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
Clin Genet
; 83(2): 187-90, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22428906
8.
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Nat Genet
; 36(11): 1159-61, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15475955
9.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Hum Mutat
; 33(2): 316-26, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095942
10.
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
Sci Rep
; 12(1): 14959, 2022 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056138
11.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med
; 359(16): 1685-99, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18784092
12.
Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association.
Pediatr Nephrol
; 25(8): 1551-4, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20191367
13.
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
Horm Res
; 68(1): 32-7, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17308433
14.
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.
Mol Genet Genomic Med
; 5(3): 261-268, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546996
15.
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
Nucleic Acids Res
; 32(20): e164, 2004 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-15561999
16.
The movement disorders of Coffin-Lowry syndrome.
Brain Dev
; 27(2): 108-13, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15668049
17.
Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.
Brain Dev
; 27(2): 118-24, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15668051
18.
DNA copy number variations are important in the complex genetic architecture of müllerian disorders.
Fertil Steril
; 103(4): 1021-1030.e1, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25707337
19.
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
J Mol Med (Berl)
; 93(7): 773-82, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25686753
20.
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circ Cardiovasc Genet
; 8(4): 572-581, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25963545