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D Baralle

Showing results (11-20 of 21) with videos related to

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Journal of Medical Genetics|April 3, 2004
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domainC Mattocks, D Baralle, P Tarpey, et al.
Journal of Medical Genetics|July 5, 2005
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)J L Whittaker, C Mattocks, D Baralle, et al.
Journal of Medical Genetics|June 7, 2005
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)J L Whittaker, C Mattocks, D Baralle, et al.
British Journal of Cancer|June 21, 2006
A prospective study of neurofibromatosis type 1 cancer incidence in the UKL Walker, D Thompson, D Easton, et al.
American Journal of Human Genetics|September 1, 1993
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA regionW P Whitehouse, M Rees, D Curtis, et al.
Molecular Syndromology|April 19, 2012
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight GainS Naik, N S Thomas, J H Davies, et al.
Journal of Medical Genetics|March 8, 2003
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assayM Baralle, D Baralle, L De Conti, et al.
Clinical Genetics|September 8, 2011
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalitiesD O Robinson, F Lin, M Lyon, et al.
Neuropediatrics|February 1, 1994
Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variantsM Rees, D Curtis, K Parker, et al.
Familial Cancer|August 19, 2010
An intronic mutation in MLH1 associated with familial colon and breast cancerF Bianchi, M Raponi, F Piva, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|April 3, 2004
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domainC Mattocks, D Baralle, P Tarpey, et al.
Journal of Medical Genetics|July 5, 2005
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)J L Whittaker, C Mattocks, D Baralle, et al.
Journal of Medical Genetics|June 7, 2005
Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)J L Whittaker, C Mattocks, D Baralle, et al.
British Journal of Cancer|June 21, 2006
A prospective study of neurofibromatosis type 1 cancer incidence in the UKL Walker, D Thompson, D Easton, et al.
American Journal of Human Genetics|September 1, 1993
Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA regionW P Whitehouse, M Rees, D Curtis, et al.
Molecular Syndromology|April 19, 2012
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight GainS Naik, N S Thomas, J H Davies, et al.
Journal of Medical Genetics|March 8, 2003
Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assayM Baralle, D Baralle, L De Conti, et al.
Clinical Genetics|September 8, 2011
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalitiesD O Robinson, F Lin, M Lyon, et al.
Neuropediatrics|February 1, 1994
Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variantsM Rees, D Curtis, K Parker, et al.
Familial Cancer|August 19, 2010
An intronic mutation in MLH1 associated with familial colon and breast cancerF Bianchi, M Raponi, F Piva, et al.
Pageof 3