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Eric Haan

Showing results (21-30 of 75) with videos related to

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European Journal of Medical Genetics|May 3, 2015
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndromeMarie Shaw, Tzu Ying Yap, Lyndal Henden, et al.
European Heart Journal. Cardiovascular Imaging|January 23, 2019
Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography studySuchi Grover, Rachael Lloyd, Rebecca Perry, et al.
Pediatric Research|November 1, 2002
The risk of mortality or cerebral palsy in twins: a collaborative population-based studyAnn I Scher, Bev Petterson, Eve Blair, et al.
American Journal of Medical Genetics|February 13, 2002
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomaliesElizabeth Baker, Lyn Hinton, David F Callen, et al.
Heart Rhythm|May 10, 2016
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaBelinda Gray, Richard D Bagnall, Lien Lam, et al.
American Journal of Human Genetics|March 11, 2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthClaire C Homan, Raman Kumar, Lam Son Nguyen, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Rare copy number variation in cerebral palsyGai McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|November 29, 2014
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosisMartin B Delatycki, Jo Burke, Louise Christie, et al.
American Journal of Human Genetics|May 9, 2003
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationVera M Kalscheuer, Jiong Tao, Andrew Donnelly, et al.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Pageof 8

Showing results (21-30 of 75) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|May 3, 2015
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndromeMarie Shaw, Tzu Ying Yap, Lyndal Henden, et al.
European Heart Journal. Cardiovascular Imaging|January 23, 2019
Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography studySuchi Grover, Rachael Lloyd, Rebecca Perry, et al.
Pediatric Research|November 1, 2002
The risk of mortality or cerebral palsy in twins: a collaborative population-based studyAnn I Scher, Bev Petterson, Eve Blair, et al.
American Journal of Medical Genetics|February 13, 2002
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomaliesElizabeth Baker, Lyn Hinton, David F Callen, et al.
Heart Rhythm|May 10, 2016
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaBelinda Gray, Richard D Bagnall, Lien Lam, et al.
American Journal of Human Genetics|March 11, 2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthClaire C Homan, Raman Kumar, Lam Son Nguyen, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Rare copy number variation in cerebral palsyGai McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|November 29, 2014
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosisMartin B Delatycki, Jo Burke, Louise Christie, et al.
American Journal of Human Genetics|May 9, 2003
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationVera M Kalscheuer, Jiong Tao, Andrew Donnelly, et al.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Pageof 8