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HGG Advances
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March 14, 2026
Impaired retinoic acid receptor-γ signalling underlies a heritable form of urothelial keratinising squamous metaplasia
Kaya Fukushima, Nicole Avery, Jade Desjardins, et al.
Cell Reports
|
December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
Adam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Human Mutation
|
October 13, 2017
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
Zandra A Jenkins, Alison Macharg, Cheng-Yee Chang, et al.
American Journal of Human Genetics
|
May 29, 2018
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, et al.
Nature Genetics
|
December 17, 2008
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Zandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, et al.
American Journal of Medical Genetics. Part A
|
November 2, 2011
The male phenotype in osteopathia striata congenita with cranial sclerosis
Sarah K Holman, Phil Daniel, Zandra A Jenkins, et al.
American Journal of Medical Genetics. Part A
|
May 13, 2017
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Emma M Wade, Zandra A Jenkins, Philip B Daniel, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
Stephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Nature Genetics
|
September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Silvia Cappello, Mary J Gray, Caroline Badouel, et al.
American Journal of Human Genetics
|
July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Emma M Wade, Philip B Daniel, Zandra A Jenkins, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
HGG Advances
|
March 14, 2026
Impaired retinoic acid receptor-γ signalling underlies a heritable form of urothelial keratinising squamous metaplasia
Kaya Fukushima, Nicole Avery, Jade Desjardins, et al.
Cell Reports
|
December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
Adam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Human Mutation
|
October 13, 2017
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies
Zandra A Jenkins, Alison Macharg, Cheng-Yee Chang, et al.
American Journal of Human Genetics
|
May 29, 2018
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, et al.
Nature Genetics
|
December 17, 2008
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Zandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, et al.
American Journal of Medical Genetics. Part A
|
November 2, 2011
The male phenotype in osteopathia striata congenita with cranial sclerosis
Sarah K Holman, Phil Daniel, Zandra A Jenkins, et al.
American Journal of Medical Genetics. Part A
|
May 13, 2017
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Emma M Wade, Zandra A Jenkins, Philip B Daniel, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
Stephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.
Nature Genetics
|
September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Silvia Cappello, Mary J Gray, Caroline Badouel, et al.
American Journal of Human Genetics
|
July 19, 2016
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Emma M Wade, Philip B Daniel, Zandra A Jenkins, et al.
Page
of 3