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Nature Biotechnology
|
January 10, 2008
A quantitative analysis of kinase inhibitor selectivity
Mazen W Karaman, Sanna Herrgard, Daniel K Treiber, et al.
Human Mutation
|
February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4
Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
Human Molecular Genetics
|
May 10, 2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, et al.
Human Molecular Genetics
|
February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Timothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
March 26, 2017
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
Priya Kishnani, Mark Tarnopolsky, Mark Roberts, et al.
Journal of Neurology
|
April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
Eppie M Yiu, Geneieve Tai, Roger E Peverill, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 28, 2005
Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases
Todd A Carter, Lisa M Wodicka, Neil P Shah, et al.
Human Mutation
|
October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Ashley P L Marsh, Timothy J Edwards, Charles Galea, et al.
American Journal of Human Genetics
|
May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
Ryan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Page
of 40
Search research articles
Search
Showing results (341-350 of 393) with videos related to
Sort By:
Page
of 40
Nature Biotechnology
|
January 10, 2008
A quantitative analysis of kinase inhibitor selectivity
Mazen W Karaman, Sanna Herrgard, Daniel K Treiber, et al.
Human Mutation
|
February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4
Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
Human Molecular Genetics
|
May 10, 2018
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, et al.
Human Molecular Genetics
|
February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Timothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
March 26, 2017
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
Priya Kishnani, Mark Tarnopolsky, Mark Roberts, et al.
Journal of Neurology
|
April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
Eppie M Yiu, Geneieve Tai, Roger E Peverill, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 28, 2005
Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases
Todd A Carter, Lisa M Wodicka, Neil P Shah, et al.
Human Mutation
|
October 26, 2017
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome
Ashley P L Marsh, Timothy J Edwards, Charles Galea, et al.
American Journal of Human Genetics
|
May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
Ryan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Page
of 40