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Neurology. Genetics
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January 18, 2024
Novel <i>SLC13A3</i> Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review
Kristen N Wong, Lorenzo D Botto, Miao He, et al.
Neurology. Genetics
|
May 23, 2024
Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.
Neurology. Genetics
|
June 4, 2024
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes
Mutsuo Kouhashi, Kayoko Yukawa, Naoko Yano, et al.
Neurology. Genetics
|
May 24, 2024
Tribal Founder <i>EMC1</i> Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of <i>EMC1</i>-Related Disorder
Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, et al.
Neurology. Genetics
|
September 23, 2024
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study
Emilie Groulx-Boivin, Andrea Oliveira-Carneiro, Helen Carlson, et al.
Neurology. Genetics
|
September 19, 2024
Refractory Epilepsy in Adult Patient With <i>COQ8A</i> Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU
Jonathan LoVoi, Don Q Thai, Jennifer Han, et al.
Neurology. Genetics
|
October 8, 2024
Ictal and Postictal Central Apnea in <i>DEPDC5</i>-Related Epilepsy
Stefano Meletti, Gian Marco Duma, Margherita Burani, et al.
Neurology. Genetics
|
October 8, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule
Kristl G Claeys, Marco Savarese, Per Harald Jonson, et al.
Neurology. Genetics
|
June 9, 2023
Cumulative Genetic Score and
John Dou, Kelly Bakulski, Kai Guo, et al.
Neurology. Genetics
|
November 8, 2024
Erratum: Missing Full Disclosures
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of 102
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Showing results (211-220 of 1,011) with videos related to
Sort By:
Page
of 102
Neurology. Genetics
|
January 18, 2024
Novel <i>SLC13A3</i> Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review
Kristen N Wong, Lorenzo D Botto, Miao He, et al.
Neurology. Genetics
|
May 23, 2024
Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.
Neurology. Genetics
|
June 4, 2024
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes
Mutsuo Kouhashi, Kayoko Yukawa, Naoko Yano, et al.
Neurology. Genetics
|
May 24, 2024
Tribal Founder <i>EMC1</i> Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of <i>EMC1</i>-Related Disorder
Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, et al.
Neurology. Genetics
|
September 23, 2024
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study
Emilie Groulx-Boivin, Andrea Oliveira-Carneiro, Helen Carlson, et al.
Neurology. Genetics
|
September 19, 2024
Refractory Epilepsy in Adult Patient With <i>COQ8A</i> Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU
Jonathan LoVoi, Don Q Thai, Jennifer Han, et al.
Neurology. Genetics
|
October 8, 2024
Ictal and Postictal Central Apnea in <i>DEPDC5</i>-Related Epilepsy
Stefano Meletti, Gian Marco Duma, Margherita Burani, et al.
Neurology. Genetics
|
October 8, 2024
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule
Kristl G Claeys, Marco Savarese, Per Harald Jonson, et al.
Neurology. Genetics
|
June 9, 2023
Cumulative Genetic Score and
John Dou, Kelly Bakulski, Kai Guo, et al.
Neurology. Genetics
|
November 8, 2024
Erratum: Missing Full Disclosures
Page
of 102