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Showing results (581-590 of 594) with videos related to

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Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.
Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.
Brain : a Journal of Neurology|August 14, 2025
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patientsVicente Quiroz, Julian E Alecu, Umar Zubair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 60

Showing results (581-590 of 594) with videos related to

Sort By:
Pageof 60
Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.
American Journal of Human Genetics|July 27, 2021
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.
Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.
Brain : a Journal of Neurology|August 14, 2025
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patientsVicente Quiroz, Julian E Alecu, Umar Zubair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Arxiv|February 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Brain : a Journal of Neurology|November 5, 2020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulationLaura Cif, Diane Demailly, Jean-Pierre Lin, et al.
Pageof 60