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G Riley

Showing results (391-400 of 522) with videos related to

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Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.
Haematologica|July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Molecular Biology and Evolution|February 2, 2021
Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in BovidaeAurélie Allais-Bonnet, Aurélie Hintermann, Marie-Christine Deloche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Physical Review Letters|May 14, 2016
Measurement of Long-Range Near-Side Two-Particle Angular Correlations in pp Collisions at sqrt[s]=13  TeVV Khachatryan, A M Sirunyan, A Tumasyan, et al.
The European Physical Journal. C, Particles and Fields|January 28, 2020
Search for dark matter produced in association with heavy-flavor quark pairs in proton-proton collisions at <math> </math>A M Sirunyan, A Tumasyan, W Adam, et al.
The European Physical Journal. C, Particles and Fields|June 6, 2017
A search for new phenomena in pp collisions at [Formula: see text] in final states with missing transverse momentum and at least one jet using the [Formula: see text] variableV Khachatryan, A M Sirunyan, A Tumasyan, et al.
Pageof 53

Showing results (391-400 of 522) with videos related to

Sort By:
Pageof 53
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.
Haematologica|July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Molecular Biology and Evolution|February 2, 2021
Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in BovidaeAurélie Allais-Bonnet, Aurélie Hintermann, Marie-Christine Deloche, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Physical Review Letters|May 14, 2016
Measurement of Long-Range Near-Side Two-Particle Angular Correlations in pp Collisions at sqrt[s]=13  TeVV Khachatryan, A M Sirunyan, A Tumasyan, et al.
The European Physical Journal. C, Particles and Fields|January 28, 2020
Search for dark matter produced in association with heavy-flavor quark pairs in proton-proton collisions at <math> </math>A M Sirunyan, A Tumasyan, W Adam, et al.
The European Physical Journal. C, Particles and Fields|June 6, 2017
A search for new phenomena in pp collisions at [Formula: see text] in final states with missing transverse momentum and at least one jet using the [Formula: see text] variableV Khachatryan, A M Sirunyan, A Tumasyan, et al.
Pageof 53