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Stephen P Robertson

Showing results (61-70 of 146) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 29, 2004
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndromeStephen R F Twigg, Rui Kan, Christian Babbs, et al.
Frontiers in Genetics|March 16, 2026
Allelic diversity of the pharmacogenes CYP2D6 and CYP2C19 in Māori from Te Tairāwhiti, Aotearoa New ZealandLeonie Hitchman, Te Whetu Aarahi Kerekere, Allison L Miller, et al.
Internal Medicine Journal|September 21, 2023
Mitochondrial disease in New Zealand: a nationwide prevalence studySarah Missen, Callum Wilson, Howard Potter, et al.
European Journal of Human Genetics : EJHG|December 4, 2019
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotypeSean G W Driver, Meremaihi R Jackson, Konrad Richter, et al.
American Journal of Medical Genetics. Part A|November 5, 2011
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopiaMargriet van Kogelenberg, Margherita Lerone, Teresa De Toni, et al.
The Journal of Clinical Endocrinology and Metabolism|January 24, 2020
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical NeoplasiaHui Peng, Zandra A Jenkins, Ruby White, et al.
American Journal of Medical Genetics. Part A|July 17, 2021
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasiaEmma M Wade, Zandra A Jenkins, Tim Morgan, et al.
EMBO Reports|March 25, 2020
ECE2 regulates neurogenesis and neuronal migration during human cortical developmentIsabel Y Buchsbaum, Pavel Kielkowski, Grazia Giorgio, et al.
Bone Reports|March 13, 2023
<i>FLNA-</i>filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-functionEmma M Wade, Elizabeth A Goodin, Yongqiang Wang, et al.
Prenatal Diagnosis|September 30, 2006
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disordersMarina Colombani, Nicole Laurent, Martine Le Merrer, et al.
Pageof 15

Showing results (61-70 of 146) with videos related to

Sort By:
Pageof 15
Proceedings of the National Academy of Sciences of the United States of America|May 29, 2004
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndromeStephen R F Twigg, Rui Kan, Christian Babbs, et al.
Frontiers in Genetics|March 16, 2026
Allelic diversity of the pharmacogenes CYP2D6 and CYP2C19 in Māori from Te Tairāwhiti, Aotearoa New ZealandLeonie Hitchman, Te Whetu Aarahi Kerekere, Allison L Miller, et al.
Internal Medicine Journal|September 21, 2023
Mitochondrial disease in New Zealand: a nationwide prevalence studySarah Missen, Callum Wilson, Howard Potter, et al.
European Journal of Human Genetics : EJHG|December 4, 2019
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotypeSean G W Driver, Meremaihi R Jackson, Konrad Richter, et al.
American Journal of Medical Genetics. Part A|November 5, 2011
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopiaMargriet van Kogelenberg, Margherita Lerone, Teresa De Toni, et al.
The Journal of Clinical Endocrinology and Metabolism|January 24, 2020
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical NeoplasiaHui Peng, Zandra A Jenkins, Ruby White, et al.
American Journal of Medical Genetics. Part A|July 17, 2021
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasiaEmma M Wade, Zandra A Jenkins, Tim Morgan, et al.
EMBO Reports|March 25, 2020
ECE2 regulates neurogenesis and neuronal migration during human cortical developmentIsabel Y Buchsbaum, Pavel Kielkowski, Grazia Giorgio, et al.
Bone Reports|March 13, 2023
<i>FLNA-</i>filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-functionEmma M Wade, Elizabeth A Goodin, Yongqiang Wang, et al.
Prenatal Diagnosis|September 30, 2006
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disordersMarina Colombani, Nicole Laurent, Martine Le Merrer, et al.
Pageof 15