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Biochemical Society Transactions
|
June 3, 2026
The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease
Cristian Herrera-Cid, Oskar Kaaber Thomsen, Linéa Désarbre, et al.
DNA and Cell Biology
|
February 5, 2008
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells
Janni Vestergaard, Allan Lind-Thomsen, Mikkel W Pedersen, et al.
American Journal of Medical Genetics. Part A
|
July 18, 2009
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24
Yvonne Hilhorst-Hofstee, Zeynep Tümer, Peter Born, et al.
Heliyon
|
September 17, 2024
Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family
Mahmood Rasool, Peter Natesan Pushparaj, Absarul Haque, et al.
European Journal of Human Genetics : EJHG
|
January 29, 2009
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
Litu Zhang, Zeynep Tümer, Kjeld Møllgård, et al.
Biopreservation and Biobanking
|
July 18, 2018
Challenges for the Sustainability of University-Run Biobanks
Nana Cecilie Halmsted Kongsholm, Søren Tvorup Christensen, Janne Rothmar Hermann, et al.
European Journal of Medical Genetics
|
August 6, 2017
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
Uzma Abdullah, Muhammad Farooq, Yuan Mang, et al.
Human Mutation
|
November 28, 2008
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
Paal Skytt Andersen, Ole Havndrup, Lotte Hougs, et al.
The Journal of Cell Biology
|
December 15, 2017
IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases
Fabian Marc Schmid, Kenneth Bødtker Schou, Martin Juel Vilhelm, et al.
Human Genetics
|
September 30, 2024
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
Daniel A Baird, Hira Mubeen, Canan Doganli, et al.
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of 5
Search research articles
Search
Showing results (31-40 of 50) with videos related to
Sort By:
Page
of 5
Biochemical Society Transactions
|
June 3, 2026
The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease
Cristian Herrera-Cid, Oskar Kaaber Thomsen, Linéa Désarbre, et al.
DNA and Cell Biology
|
February 5, 2008
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells
Janni Vestergaard, Allan Lind-Thomsen, Mikkel W Pedersen, et al.
American Journal of Medical Genetics. Part A
|
July 18, 2009
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24
Yvonne Hilhorst-Hofstee, Zeynep Tümer, Peter Born, et al.
Heliyon
|
September 17, 2024
Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family
Mahmood Rasool, Peter Natesan Pushparaj, Absarul Haque, et al.
European Journal of Human Genetics : EJHG
|
January 29, 2009
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
Litu Zhang, Zeynep Tümer, Kjeld Møllgård, et al.
Biopreservation and Biobanking
|
July 18, 2018
Challenges for the Sustainability of University-Run Biobanks
Nana Cecilie Halmsted Kongsholm, Søren Tvorup Christensen, Janne Rothmar Hermann, et al.
European Journal of Medical Genetics
|
August 6, 2017
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
Uzma Abdullah, Muhammad Farooq, Yuan Mang, et al.
Human Mutation
|
November 28, 2008
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
Paal Skytt Andersen, Ole Havndrup, Lotte Hougs, et al.
The Journal of Cell Biology
|
December 15, 2017
IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases
Fabian Marc Schmid, Kenneth Bødtker Schou, Martin Juel Vilhelm, et al.
Human Genetics
|
September 30, 2024
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
Daniel A Baird, Hira Mubeen, Canan Doganli, et al.
Page
of 5