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Catherine L Mercer

Showing results (1-10 of 11) with videos related to

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Clinical Dysmorphology|April 5, 2008
Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?Catherine L Mercer, Barry Keeton, Nicolas R Dennis
American Journal of Medical Genetics. Part A|September 3, 2016
Chromosome 5q33 deletions associated with congenital heart defectsMolly Starkovich, Seema R Lalani, Catherine L Mercer, et al.
Circulation. Cardiovascular Genetics|December 15, 2017
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With <i>FLNA</i>Catherine L Mercer, Gaia Andreoletti, Aisling Carroll, et al.
European Journal of Medical Genetics|October 13, 2012
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertilityCatherine L Mercer, Katherine Lachlan, Alexandra Karcanias, et al.
American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
Circulation. Genomic and Precision Medicine|March 25, 2025
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in <i>KCNH2</i>-Related LQTSSusan Clasper, Gunjan Trivedi, Kate L Thomson, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Clinical Dysmorphology|April 5, 2008
Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?Catherine L Mercer, Barry Keeton, Nicolas R Dennis
American Journal of Medical Genetics. Part A|September 3, 2016
Chromosome 5q33 deletions associated with congenital heart defectsMolly Starkovich, Seema R Lalani, Catherine L Mercer, et al.
Circulation. Cardiovascular Genetics|December 15, 2017
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With <i>FLNA</i>Catherine L Mercer, Gaia Andreoletti, Aisling Carroll, et al.
European Journal of Medical Genetics|October 13, 2012
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertilityCatherine L Mercer, Katherine Lachlan, Alexandra Karcanias, et al.
American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
Circulation. Genomic and Precision Medicine|March 25, 2025
Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in <i>KCNH2</i>-Related LQTSSusan Clasper, Gunjan Trivedi, Kate L Thomson, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Pageof 2