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Marcella Devoto

Showing results (41-50 of 122) with videos related to

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Clinical Chemistry|September 23, 2003
CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencingOrazio Palmieri, Stephen Toth, Alessandro Ferraris, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndromeChristopher M Grochowski, Ramakrishnan Rajagopalan, Alexandra M Falsey, et al.
American Journal of Human Genetics|September 6, 2002
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung diseasePaola Griseri, Barbara Pesce, Giovanna Patrone, et al.
Thrombosis and Haemostasis|November 13, 2002
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strengthRama Kudaravalli, Theresa Tidd, Mirko Pinotti, et al.
European Journal of Human Genetics : EJHG|April 9, 2002
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisationFarhad Mirghomizadeh, Bettina Bardtke, Marcella Devoto, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 14, 2016
IQ and hemizygosity for the Val<sup>158</sup> Met functional polymorphism of COMT in 22q11DSColleen P Franconi, Donna McDonald-McGinn, Elaine H Zackai, et al.
European Journal of Human Genetics : EJHG|April 14, 2005
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral densityMarcella Devoto, Loretta D Spotila, Deborah L Stabley, et al.
Oncogene|November 26, 2002
Weak linkage at 4p16 to predisposition for human neuroblastomaPatrizia Perri, Luca Longo, Roberto Cusano, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
Pageof 13

Showing results (41-50 of 122) with videos related to

Sort By:
Pageof 13
Clinical Chemistry|September 23, 2003
CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencingOrazio Palmieri, Stephen Toth, Alessandro Ferraris, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndromeChristopher M Grochowski, Ramakrishnan Rajagopalan, Alexandra M Falsey, et al.
American Journal of Human Genetics|September 6, 2002
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung diseasePaola Griseri, Barbara Pesce, Giovanna Patrone, et al.
Thrombosis and Haemostasis|November 13, 2002
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strengthRama Kudaravalli, Theresa Tidd, Mirko Pinotti, et al.
European Journal of Human Genetics : EJHG|April 9, 2002
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisationFarhad Mirghomizadeh, Bettina Bardtke, Marcella Devoto, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 14, 2016
IQ and hemizygosity for the Val<sup>158</sup> Met functional polymorphism of COMT in 22q11DSColleen P Franconi, Donna McDonald-McGinn, Elaine H Zackai, et al.
European Journal of Human Genetics : EJHG|April 14, 2005
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral densityMarcella Devoto, Loretta D Spotila, Deborah L Stabley, et al.
Oncogene|November 26, 2002
Weak linkage at 4p16 to predisposition for human neuroblastomaPatrizia Perri, Luca Longo, Roberto Cusano, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
Pageof 13