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American Journal of Human Genetics
|
January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome
Philippe M Campeau, Jaeseung C Kim, James T Lu, 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.
European Journal of Human Genetics : EJHG
|
October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
Eyal Reinstein, Sophia Frentz, Tim Morgan, et al.
Journal of Medical Genetics
|
June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Chemical Communications (Cambridge, England)
|
March 10, 2025
Structural insights of mechanochemically amorphised MIL-125-NH<sub>2</sub>
Emily V Shaw, Celia Castillo-Blas, Timothy Lambden, et al.
Nature Genetics
|
March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Deborah Krakow, Stephen P Robertson, Lily M King, et al.
Annals of Neurology
|
October 23, 2021
COVID-19 Vaccine Response in People with Multiple Sclerosis
Emma C Tallantyre, Nicola Vickaryous, Valerie Anderson, et al.
Blood
|
May 13, 2020
IKAROS and CK2 regulate expression of BCL-XL and chemosensitivity in high-risk B-cell acute lymphoblastic leukemia
Chunhua Song, Zheng Ge, Yali Ding, et al.
American Journal of Human Genetics
|
April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Amy G Jones, Matilde Aquilino, Rory J Tinker, 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.
Page
of 101
Search research articles
Search
Showing results (971-980 of 1,005) with videos related to
Sort By:
Page
of 101
American Journal of Human Genetics
|
January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome
Philippe M Campeau, Jaeseung C Kim, James T Lu, 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.
European Journal of Human Genetics : EJHG
|
October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
Eyal Reinstein, Sophia Frentz, Tim Morgan, et al.
Journal of Medical Genetics
|
June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Chemical Communications (Cambridge, England)
|
March 10, 2025
Structural insights of mechanochemically amorphised MIL-125-NH<sub>2</sub>
Emily V Shaw, Celia Castillo-Blas, Timothy Lambden, et al.
Nature Genetics
|
March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Deborah Krakow, Stephen P Robertson, Lily M King, et al.
Annals of Neurology
|
October 23, 2021
COVID-19 Vaccine Response in People with Multiple Sclerosis
Emma C Tallantyre, Nicola Vickaryous, Valerie Anderson, et al.
Blood
|
May 13, 2020
IKAROS and CK2 regulate expression of BCL-XL and chemosensitivity in high-risk B-cell acute lymphoblastic leukemia
Chunhua Song, Zheng Ge, Yali Ding, et al.
American Journal of Human Genetics
|
April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Amy G Jones, Matilde Aquilino, Rory J Tinker, 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.
Page
of 101