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Lisa G Riley

Showing results (21-30 of 44) with videos related to

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European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
Molecular Genetics and Metabolism|January 7, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in childrenLisa G Riley, Michael Nafisinia, Minal J Menezes, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing lossAnne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.
Blood Advances|April 27, 2022
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorderAram Niaz, Jia Truong, Annabel Manoleras, et al.
Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Human Mutation|August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathyRocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Pageof 5

Showing results (21-30 of 44) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
Molecular Genetics and Metabolism|January 7, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in childrenLisa G Riley, Michael Nafisinia, Minal J Menezes, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing lossAnne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
European Journal of Human Genetics : EJHG|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathyLisa G Riley, Subrata Sabui, Hamid M Said, et al.
Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of <i>ANO10</i>-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.
Blood Advances|April 27, 2022
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorderAram Niaz, Jia Truong, Annabel Manoleras, et al.
Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Human Mutation|August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathyRocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Pageof 5