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Neurogenetics

Showing results (211-220 of 1,080) with videos related to

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Neurogenetics|April 28, 2021
A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?Sevim Türay, Recep Eröz, A Nazlı Başak
Neurogenetics|August 7, 2021
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinicY Trakadis, A Accogli, B Qi, et al.
Neurogenetics|August 9, 2021
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutationSai Yang, Liwen Wu, Hongmei Liao, et al.
Neurogenetics|August 1, 2021
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patientsKiran Polavarapu, Aradhna Mathur, Aditi Joshi, et al.
Neurogenetics|February 9, 2023
Two patients with KDM3B variants and new presentations of Diets-Jongmans syndromeXiangyue Zhao, Tingting Yu, Jie Tang, et al.
Neurogenetics|January 8, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrumSilvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, et al.
Neurogenetics|February 24, 2026
Association of TRPM7 gene mutation with familial vestibular migraineYong Luo, Jian Chen, Qian Li, et al.
Neurogenetics|November 6, 2025
A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASILAmal Ouskri, Hajar Ihlal, Zaid En-Nasery, et al.
Neurogenetics|October 22, 2025
A novel VPS13A mutation in an Iranian family with Chorea-AcanthocytosisMaryam Salmanian, Fatemeh Mohammadian, Fatemeh Alizadeh
Neurogenetics|September 24, 2025
Insights into the heterogeneity of oculopharyngeal muscular dystrophyKyriaki Kekou, Constantinos Papadopoulos, Maria Svingou, et al.
Pageof 108

Showing results (211-220 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|April 28, 2021
A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?Sevim Türay, Recep Eröz, A Nazlı Başak
Neurogenetics|August 7, 2021
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinicY Trakadis, A Accogli, B Qi, et al.
Neurogenetics|August 9, 2021
Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutationSai Yang, Liwen Wu, Hongmei Liao, et al.
Neurogenetics|August 1, 2021
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patientsKiran Polavarapu, Aradhna Mathur, Aditi Joshi, et al.
Neurogenetics|February 9, 2023
Two patients with KDM3B variants and new presentations of Diets-Jongmans syndromeXiangyue Zhao, Tingting Yu, Jie Tang, et al.
Neurogenetics|January 8, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrumSilvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, et al.
Neurogenetics|February 24, 2026
Association of TRPM7 gene mutation with familial vestibular migraineYong Luo, Jian Chen, Qian Li, et al.
Neurogenetics|November 6, 2025
A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASILAmal Ouskri, Hajar Ihlal, Zaid En-Nasery, et al.
Neurogenetics|October 22, 2025
A novel VPS13A mutation in an Iranian family with Chorea-AcanthocytosisMaryam Salmanian, Fatemeh Mohammadian, Fatemeh Alizadeh
Neurogenetics|September 24, 2025
Insights into the heterogeneity of oculopharyngeal muscular dystrophyKyriaki Kekou, Constantinos Papadopoulos, Maria Svingou, et al.
Pageof 108