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Stephen P Robertson

Showing results (11-20 of 146) with videos related to

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The Journal of Biological Chemistry|March 29, 2017
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin ASujay S Ithychanda, Kevin Dou, Stephen P Robertson, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Variable expression of campomelic dysplasia in a father and his 46, XY daughterRavi Savarirayan, Stephen P Robertson, Agnes Bankier, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 29, 2026
Altered corpus callosum microstructure in people with non-syndromic congenital mirror movements (CMM)Xueyao Lu, Elizabeth A Franz, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findingsAdrián Mariño-Enríquez, Pablo Lapunzina, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in malesCareni Spencer, Hendrik Lombaard, Amy Wise, et al.
Endocrinology, Diabetes & Metabolism Case Reports|November 20, 2019
Cantu syndrome and hypopituitarism: implications for endocrine monitoringNicholas J Theis, Toby Calvert, Peter McIntyre, et al.
Fetal Diagnosis and Therapy|February 23, 2012
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imagingSeiji Tsutsumi, Ayako Maekawa, Miyuki Obata, et al.
Human Molecular Genetics|September 24, 2009
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disordersAlice R Clark, Gregory M Sawyer, Stephen P Robertson, et al.
The Journal of Craniofacial Surgery|March 26, 2013
Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasiaAmanda Louise Griffiths, Andrew Heggie, Sarah Holman, et al.
Journal of Molecular Biology|June 10, 2009
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domainsGregory M Sawyer, Alice R Clark, Stephen P Robertson, et al.
Pageof 15

Showing results (11-20 of 146) with videos related to

Sort By:
Pageof 15
The Journal of Biological Chemistry|March 29, 2017
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin ASujay S Ithychanda, Kevin Dou, Stephen P Robertson, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Variable expression of campomelic dysplasia in a father and his 46, XY daughterRavi Savarirayan, Stephen P Robertson, Agnes Bankier, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 29, 2026
Altered corpus callosum microstructure in people with non-syndromic congenital mirror movements (CMM)Xueyao Lu, Elizabeth A Franz, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findingsAdrián Mariño-Enríquez, Pablo Lapunzina, Stephen P Robertson, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in malesCareni Spencer, Hendrik Lombaard, Amy Wise, et al.
Endocrinology, Diabetes & Metabolism Case Reports|November 20, 2019
Cantu syndrome and hypopituitarism: implications for endocrine monitoringNicholas J Theis, Toby Calvert, Peter McIntyre, et al.
Fetal Diagnosis and Therapy|February 23, 2012
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imagingSeiji Tsutsumi, Ayako Maekawa, Miyuki Obata, et al.
Human Molecular Genetics|September 24, 2009
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disordersAlice R Clark, Gregory M Sawyer, Stephen P Robertson, et al.
The Journal of Craniofacial Surgery|March 26, 2013
Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasiaAmanda Louise Griffiths, Andrew Heggie, Sarah Holman, et al.
Journal of Molecular Biology|June 10, 2009
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domainsGregory M Sawyer, Alice R Clark, Stephen P Robertson, et al.
Pageof 15