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Journal of Neuromuscular Diseases
|
April 10, 2025
The continued promise of genomic technologies and software in neurogenetics
Isaac R L Xu, Matt C Danzi, Jacquelyn Raposo, et al.
The Journal of Biological Chemistry
|
October 18, 2024
AMH regulates a mosaic population of AMHR2-positive cells in the ovarian surface epithelium
Elizabeth R Smith, Dorcus Ye, Shihua Luo, et al.
Current Neurology and Neuroscience Reports
|
January 17, 2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
David Pellerin, Pablo Iruzubieta, Isaac R L Xu, et al.
Neuromuscular Disorders : NMD
|
May 6, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness
Barbora Lauerova, Anezka Dolanska, Petra Lassuthova, et al.
Journal of Personalized Medicine
|
March 29, 2023
Generative Adversarial Networks Can Create High Quality Artificial Prostate Cancer Magnetic Resonance Images
Isaac R L Xu, Derek J Van Booven, Sankalp Goberdhan, et al.
Gynecologic Oncology Reports
|
November 28, 2025
Inverse correlation between Lamin A/C and survival in ovarian cancer: implications for predicting responsiveness to taxane-based chemotherapy
Elizabeth R Smith, Isaac R L Xu, Kathy Qi Cai, et al.
Brain : a Journal of Neurology
|
July 15, 2024
Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease
Jessica Medina, Adriana Rebelo, Matt C Danzi, et al.
Biorxiv : the Preprint Server for Biology
|
January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity
Matt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Journal of the Peripheral Nervous System : JPNS
|
April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
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Search research articles
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Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Journal of Neuromuscular Diseases
|
April 10, 2025
The continued promise of genomic technologies and software in neurogenetics
Isaac R L Xu, Matt C Danzi, Jacquelyn Raposo, et al.
The Journal of Biological Chemistry
|
October 18, 2024
AMH regulates a mosaic population of AMHR2-positive cells in the ovarian surface epithelium
Elizabeth R Smith, Dorcus Ye, Shihua Luo, et al.
Current Neurology and Neuroscience Reports
|
January 17, 2025
Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions
David Pellerin, Pablo Iruzubieta, Isaac R L Xu, et al.
Neuromuscular Disorders : NMD
|
May 6, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness
Barbora Lauerova, Anezka Dolanska, Petra Lassuthova, et al.
Journal of Personalized Medicine
|
March 29, 2023
Generative Adversarial Networks Can Create High Quality Artificial Prostate Cancer Magnetic Resonance Images
Isaac R L Xu, Derek J Van Booven, Sankalp Goberdhan, et al.
Gynecologic Oncology Reports
|
November 28, 2025
Inverse correlation between Lamin A/C and survival in ovarian cancer: implications for predicting responsiveness to taxane-based chemotherapy
Elizabeth R Smith, Isaac R L Xu, Kathy Qi Cai, et al.
Brain : a Journal of Neurology
|
July 15, 2024
Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease
Jessica Medina, Adriana Rebelo, Matt C Danzi, et al.
Biorxiv : the Preprint Server for Biology
|
January 27, 2025
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity
Matt C Danzi, Isaac R L Xu, Sarah Fazal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Journal of the Peripheral Nervous System : JPNS
|
April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Page
of 2