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Neurology. Genetics

Showing results (351-360 of 1,012) with videos related to

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Neurology. Genetics|May 1, 2023
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2Paloma Gonzalez-Perez, Eleonora S D'Ambrosio, Vincent Picher-Martel, et al.
Neurology. Genetics|November 3, 2022
Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear MyopathyLeslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, et al.
Neurology. Genetics|November 3, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic StudyBarbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
Neurology. Genetics|September 14, 2022
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct PhenotypesMinas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, et al.
Neurology. Genetics|September 30, 2022
Biallelic <i>COX10</i> Mutations and <i>PMP22</i> Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure PalsyYasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Neurology. Genetics|January 18, 2024
<i>IRF2BPL</i> Causes Mild Intellectual Disability Followed by Late-Onset AtaxiaSolveig Heide, Claire-Sophie Davoine, Paulina Cunha, et al.
Neurology. Genetics|January 18, 2024
Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental DisorderAndrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Neurology. Genetics|January 12, 2024
Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Pageof 102

Showing results (351-360 of 1,012) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|May 1, 2023
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2Paloma Gonzalez-Perez, Eleonora S D'Ambrosio, Vincent Picher-Martel, et al.
Neurology. Genetics|November 3, 2022
Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear MyopathyLeslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, et al.
Neurology. Genetics|November 3, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic StudyBarbora Straka, Barbora Hermanovska, Lenka Krskova, et al.
Neurology. Genetics|September 14, 2022
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct PhenotypesMinas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, et al.
Neurology. Genetics|September 30, 2022
Biallelic <i>COX10</i> Mutations and <i>PMP22</i> Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure PalsyYasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Neurology. Genetics|January 18, 2024
<i>IRF2BPL</i> Causes Mild Intellectual Disability Followed by Late-Onset AtaxiaSolveig Heide, Claire-Sophie Davoine, Paulina Cunha, et al.
Neurology. Genetics|January 18, 2024
Expanding the Clinical Spectrum of <i>UBTF</i>-Related Neurodevelopmental DisorderAndrea Pietra, Flavia Palombo, Melania Giannotta, et al.
Neurology. Genetics|January 12, 2024
Erratum: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Neurology. Genetics|January 18, 2024
Biallelic <i>SOX8</i> Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian DysfunctionJodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, et al.
Pageof 102