Detalhe da pesquisa
1.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.
J Med Genet
; 59(6): 544-548, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963046
2.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
PLoS Genet
; 15(3): e1007605, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30856165
3.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
4.
Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.
Am J Med Genet B Neuropsychiatr Genet
; 180(8): 566-575, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077569
5.
Clinical and genetic characterization of AP4B1-associated SPG47.
Am J Med Genet A
; 176(2): 311-318, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193663
6.
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
J Med Genet
; 51(1): 61-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24203976
7.
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
8.
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Nat Genet
; 37(3): 221-3, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15696165
9.
Germline retinoblastoma: estimating risk and counselling the family.
Community Eye Health
; 31(101): 8-9, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915459
10.
Epidemiological and genetic considerations in retinoblastoma.
Community Eye Health
; 31(101): 29-30, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915469
11.
Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.
J Med Genet
; 47(10): 717-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685673
12.
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Brain Commun
; 3(3): fcab162, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34466801
13.
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Hum Mol Genet
; 17(13): 1968-77, 2008 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18364388
14.
Contribution of retrotransposition to developmental disorders.
Nat Commun
; 10(1): 4630, 2019 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604926
15.
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
Pediatr Dermatol
; 25(3): 401-2, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18577061
16.
17.
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.
Ophthalmic Genet
; 39(3): 396-398, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29617172
18.
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Front Cell Neurosci
; 12: 429, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30532692
19.
Fifteen years of genetic testing from a London developmental clinic.
Arch Dis Child
; 102(11): 1014-1018, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28659270
20.
22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium.
Eur J Hum Genet
; 25(11): 1290, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29023437