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Neurogenetics

Showing results (411-420 of 1,080) with videos related to

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Neurogenetics|May 31, 2025
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosisAslihan Kiraz, Murat Erdogan, Burhan Balta, et al.
Neurogenetics|June 14, 2025
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathyArastoo Kaki, Maedeh Ganji, Mohammad Farid Mohammadi, et al.
Neurogenetics|November 1, 2025
Mecasermin for the treatment of Rett Syndrome: a systematic reviewFernanda Cristina Poscai Ribeiro, Maria Luiza Alves, Alice Campos Meneses, et al.
Neurogenetics|November 5, 2025
CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variantEhab Harahsheh, Bukola A Olarewaju, Deanna M Weaver, et al.
Neurogenetics|October 17, 2025
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patientsMohammad Miryounesi, Mohadeseh Fathi, Sheyda Khalilian, et al.
Neurogenetics|June 30, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2Simone Gana, Luisa Piccinni, Elisa Rognone, et al.
Neurogenetics|December 22, 2025
Miglustat does not impact clinical progression in patients with spastic paraplegia type 11Serena Mero, Ivana Ricca, Salvatore Rossi, et al.
Neurogenetics|May 19, 2025
Identification of mutations in five Pakistani families with EpilepsyNayab Ahsan, Arsalan Ahmad, Shahnawaz Hussain, et al.
Neurogenetics|November 7, 2025
Clinical value of dyslipidemia and glycemic variability for progression to dementia in type 2 diabetes mellitus-associated mild cognitive impairmentGuiTing Liu, SiOu Li, XiaoXuan Qi, et al.
Neurogenetics|November 1, 2025
Differential genetic background control state-dependent courtship ultrasonic vocalizations in miceSaeyeon Na, Jia Ryoo, Chang Bum Ko, et al.
Pageof 108

Showing results (411-420 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|May 31, 2025
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosisAslihan Kiraz, Murat Erdogan, Burhan Balta, et al.
Neurogenetics|June 14, 2025
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathyArastoo Kaki, Maedeh Ganji, Mohammad Farid Mohammadi, et al.
Neurogenetics|November 1, 2025
Mecasermin for the treatment of Rett Syndrome: a systematic reviewFernanda Cristina Poscai Ribeiro, Maria Luiza Alves, Alice Campos Meneses, et al.
Neurogenetics|November 5, 2025
CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variantEhab Harahsheh, Bukola A Olarewaju, Deanna M Weaver, et al.
Neurogenetics|October 17, 2025
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patientsMohammad Miryounesi, Mohadeseh Fathi, Sheyda Khalilian, et al.
Neurogenetics|June 30, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2Simone Gana, Luisa Piccinni, Elisa Rognone, et al.
Neurogenetics|December 22, 2025
Miglustat does not impact clinical progression in patients with spastic paraplegia type 11Serena Mero, Ivana Ricca, Salvatore Rossi, et al.
Neurogenetics|May 19, 2025
Identification of mutations in five Pakistani families with EpilepsyNayab Ahsan, Arsalan Ahmad, Shahnawaz Hussain, et al.
Neurogenetics|November 7, 2025
Clinical value of dyslipidemia and glycemic variability for progression to dementia in type 2 diabetes mellitus-associated mild cognitive impairmentGuiTing Liu, SiOu Li, XiaoXuan Qi, et al.
Neurogenetics|November 1, 2025
Differential genetic background control state-dependent courtship ultrasonic vocalizations in miceSaeyeon Na, Jia Ryoo, Chang Bum Ko, et al.
Pageof 108