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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Nature Communications
|
February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Brain : a Journal of Neurology
|
February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Brain : a Journal of Neurology
|
August 10, 2021
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, et al.
Brain Communications
|
February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Rauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
Molecular Medicine (Cambridge, Mass.)
|
April 7, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics
Asuman Koparir, Paulina Bahena Carbajal, Mina Zamini, et al.
American Journal of Human Genetics
|
January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, Hyeonho Kim, Gyubin Jang, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Gabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Annals of Neurology
|
June 20, 2025
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study
Tatiana Svorenova, Luigi M Romito, Ahmet Kaymak, et al.
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of 33
Search research articles
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Showing results (291-300 of 321) with videos related to
Sort By:
Page
of 33
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 24, 2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, et al.
Nature Communications
|
February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Brain : a Journal of Neurology
|
February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Brain : a Journal of Neurology
|
August 10, 2021
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, et al.
Brain Communications
|
February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairment
Rauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
Molecular Medicine (Cambridge, Mass.)
|
April 7, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics
Asuman Koparir, Paulina Bahena Carbajal, Mina Zamini, et al.
American Journal of Human Genetics
|
January 22, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, Hyeonho Kim, Gyubin Jang, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome
Karim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Gabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Annals of Neurology
|
June 20, 2025
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study
Tatiana Svorenova, Luigi M Romito, Ahmet Kaymak, et al.
Page
of 33