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Stephen P Robertson

Showing results (41-50 of 146) with videos related to

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BMC Medical Genomics|December 20, 2018
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori familySophia R Cameron-Christie, Justin Wilde, Andrew Gray, et al.
The American Journal of Surgical Pathology|September 28, 2010
Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstructionRaj P Kapur, Stephen P Robertson, Mark C Hannibal, et al.
Bone Reports|July 14, 2018
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy <i>Vegfa</i> overexpressionThomas Lind, Roberta Lugano, Ann-Marie Gustafson, et al.
Journal of Pediatric Gastroenterology and Nutrition|October 17, 2017
Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New ZealandHelen M Evans, M Innes Asher, Sophia Cameron-Christie, et al.
American Journal of Medical Genetics. Part A|June 10, 2024
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survivalEmma M Wade, Tim Morgan, Gregory Gimenez, et al.
Journal of Human Genetics|July 11, 2014
A new acro-osteolysis syndrome caused by duplications including PTHLHMary J Gray, Margriet van Kogelenberg, Rachel Beddow, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences|March 15, 2013
Neuropsychiatric disease in patients with periventricular heterotopiaAndrew E Fry, Michael P Kerr, Frances Gibbon, et al.
Bone Research|April 27, 2022
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse modelJennifer Zieba, Kimberly N Forlenza, Kelly Heard, et al.
Human Mutation|June 23, 2017
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism casesMarie Bernkopf, David Hunt, Nils Koelling, et al.
Neurogenetics|March 5, 2013
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotypeHeather R Tiffin, Zandra A Jenkins, Mary J Gray, et al.
Pageof 15

Showing results (41-50 of 146) with videos related to

Sort By:
Pageof 15
BMC Medical Genomics|December 20, 2018
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori familySophia R Cameron-Christie, Justin Wilde, Andrew Gray, et al.
The American Journal of Surgical Pathology|September 28, 2010
Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstructionRaj P Kapur, Stephen P Robertson, Mark C Hannibal, et al.
Bone Reports|July 14, 2018
Bones in human CYP26B1 deficiency and rats with hypervitaminosis A phenocopy <i>Vegfa</i> overexpressionThomas Lind, Roberta Lugano, Ann-Marie Gustafson, et al.
Journal of Pediatric Gastroenterology and Nutrition|October 17, 2017
Ethnic Disparity in the Incidence and Outcome of Biliary Atresia in New ZealandHelen M Evans, M Innes Asher, Sophia Cameron-Christie, et al.
American Journal of Medical Genetics. Part A|June 10, 2024
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survivalEmma M Wade, Tim Morgan, Gregory Gimenez, et al.
Journal of Human Genetics|July 11, 2014
A new acro-osteolysis syndrome caused by duplications including PTHLHMary J Gray, Margriet van Kogelenberg, Rachel Beddow, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences|March 15, 2013
Neuropsychiatric disease in patients with periventricular heterotopiaAndrew E Fry, Michael P Kerr, Frances Gibbon, et al.
Bone Research|April 27, 2022
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse modelJennifer Zieba, Kimberly N Forlenza, Kelly Heard, et al.
Human Mutation|June 23, 2017
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism casesMarie Bernkopf, David Hunt, Nils Koelling, et al.
Neurogenetics|March 5, 2013
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotypeHeather R Tiffin, Zandra A Jenkins, Mary J Gray, et al.
Pageof 15