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Monkol Lek

Showing results (41-50 of 153) with videos related to

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Human Molecular Genetics|December 19, 2015
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionMarshall W Hogarth, Fleur C Garton, Peter J Houweling, et al.
Plos Genetics|May 3, 2014
Allelic expression of deleterious protein-coding variants across human tissuesKimberly R Kukurba, Rui Zhang, Xin Li, et al.
Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.
Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.
Neuromuscular Disorders : NMD|June 21, 2011
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patientsLeigh B Waddell, Jenny Tran, Xi F Zheng, et al.
Muscle & Nerve|March 3, 2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, EgyptHemakumar M Reddy, Sherifa A Hamed, Monkol Lek, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
Dysregulation of Hippo Signaling Pathway as a Convergent Mechanism Underlying Choroid Plexus Defects in Bipolar DisorderJonghun Kim, Museog Choe, Kutlu Kaya, et al.
The Journal of Clinical Investigation|October 5, 2013
ACTN3 genotype influences muscle performance through the regulation of calcineurin signalingJane T Seto, Kate G R Quinlan, Monkol Lek, et al.
Nature Communications|May 1, 2024
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney diseaseChao Zhang, Michael Rehman, Xin Tian, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
Pageof 16

Showing results (41-50 of 153) with videos related to

Sort By:
Pageof 16
Human Molecular Genetics|December 19, 2015
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionMarshall W Hogarth, Fleur C Garton, Peter J Houweling, et al.
Plos Genetics|May 3, 2014
Allelic expression of deleterious protein-coding variants across human tissuesKimberly R Kukurba, Rui Zhang, Xin Li, et al.
Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.
Human Molecular Genetics|January 22, 2010
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleKate G R Quinlan, Jane T Seto, Nigel Turner, et al.
Neuromuscular Disorders : NMD|June 21, 2011
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patientsLeigh B Waddell, Jenny Tran, Xi F Zheng, et al.
Muscle & Nerve|March 3, 2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, EgyptHemakumar M Reddy, Sherifa A Hamed, Monkol Lek, et al.
Biorxiv : the Preprint Server for Biology|April 17, 2026
Dysregulation of Hippo Signaling Pathway as a Convergent Mechanism Underlying Choroid Plexus Defects in Bipolar DisorderJonghun Kim, Museog Choe, Kutlu Kaya, et al.
The Journal of Clinical Investigation|October 5, 2013
ACTN3 genotype influences muscle performance through the regulation of calcineurin signalingJane T Seto, Kate G R Quinlan, Monkol Lek, et al.
Nature Communications|May 1, 2024
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney diseaseChao Zhang, Michael Rehman, Xin Tian, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
Pageof 16