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1.
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Genet Med
; 19(2): 192-203, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27532257
2.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Brain
; 136(Pt 10): 3106-18, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-24030952
3.
Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.
J Allergy Clin Immunol
; 138(6): 1722-1725.e6, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27543071
4.
DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.
Eur Heart J
; 31(8): 926-35, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20299350
5.
Welcome to the new genomics: an introduction to the NHS Genomic Medicine Service for oral healthcare professionals.
Br Dent J
; 229(10): 682-686, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33247263
6.
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
Nucleic Acids Res
; 35(6): 2013-25, 2007.
Article
in English
| MEDLINE | ID: mdl-17341461
7.
Using the Findings of a National Survey to Inform the Work of England's Genomics Education Programme.
Front Genet
; 10: 1265, 2019.
Article
in English
| MEDLINE | ID: mdl-31921303
8.
Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce.
Front Genet
; 10: 1094, 2019.
Article
in English
| MEDLINE | ID: mdl-31798624
9.
Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.
Genet Test
; 9(3): 190-9, 2005.
Article
in English
| MEDLINE | ID: mdl-16225398
10.
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Eur J Hum Genet
; 22(2): 184-91, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-23714749
11.
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Eur J Hum Genet
; 21(3): 274-80, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-22968130
12.
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Eur J Hum Genet
; 20(7): 769-77, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22317976
13.
Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.
Arch Ophthalmol
; 130(11): 1486-90, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23143460
14.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Am J Med Genet A
; 143A(16): 1941-9, 2007 Aug 15.
Article
in English
| MEDLINE | ID: mdl-17621648
15.
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Am J Med Genet A
; 140(23): 2631-9, 2006 Dec 01.
Article
in English
| MEDLINE | ID: mdl-16838304
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