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E R Maher

Showing results (161-170 of 171) with videos related to

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Journal of Medical Genetics|February 5, 2008
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardationR H Scott, J Douglas, L Baskcomb, et al.
Human Molecular Genetics|June 9, 1998
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5M Paulsen, K R Davies, L M Bowden, et al.
Journal of Medical Genetics|January 11, 2000
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma onlyF J Hes, S McKee, M J Taphoorn, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|April 13, 2021
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysisF Mone, R Y Eberhardt, M E Hurles, et al.
Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1999
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeN J Smilinich, C D Day, G V Fitzpatrick, et al.
Journal of Medical Genetics|August 6, 2010
Epigenotype-phenotype correlations in Silver-Russell syndromeE L Wakeling, S Abu Amero, M Alders, et al.
Gut|June 3, 2008
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3A R Dallosso, S Dolwani, N Jones, et al.
Journal of Medical Genetics|December 14, 1999
Familial gastric cancer: overview and guidelines for managementC Caldas, F Carneiro, H T Lynch, et al.
Human Mutation|January 1, 1996
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and JapanB Zbar, T Kishida, F Chen, et al.
Pageof 18

Showing results (161-170 of 171) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|February 5, 2008
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardationR H Scott, J Douglas, L Baskcomb, et al.
Human Molecular Genetics|June 9, 1998
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5M Paulsen, K R Davies, L M Bowden, et al.
Journal of Medical Genetics|January 11, 2000
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma onlyF J Hes, S McKee, M J Taphoorn, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|April 13, 2021
Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysisF Mone, R Y Eberhardt, M E Hurles, et al.
Journal of Medical Genetics|June 17, 2003
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan, C Bacchelli, P Gissen, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1999
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeN J Smilinich, C D Day, G V Fitzpatrick, et al.
Journal of Medical Genetics|August 6, 2010
Epigenotype-phenotype correlations in Silver-Russell syndromeE L Wakeling, S Abu Amero, M Alders, et al.
Gut|June 3, 2008
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3A R Dallosso, S Dolwani, N Jones, et al.
Journal of Medical Genetics|December 14, 1999
Familial gastric cancer: overview and guidelines for managementC Caldas, F Carneiro, H T Lynch, et al.
Human Mutation|January 1, 1996
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and JapanB Zbar, T Kishida, F Chen, et al.
Pageof 18