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Archives of Disease in Childhood
|
October 31, 2013
Next-generation sequencing in childhood disorders
Ricardo Parolin Schnekenberg, Andrea H Németh
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 11, 2025
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project
Alessandro Bertini, Stefano Facchini, Ilaria Quartesan, et al.
American Journal of Human Genetics
|
September 9, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
Lancet Regional Health. Americas
|
October 13, 2025
Regional and national estimates of children affected by all-cause and COVID-19-associated orphanhood and caregiver death in Brazil, by age and family circumstance: a modeling study
Nicholas Steyn, H Juliette T Unwin, Jamie Ponmattam, et al.
Brain : a Journal of Neurology
|
May 19, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, et al.
Brain : a Journal of Neurology
|
September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.
Plos Genetics
|
December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
Stefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Frontiers in Cell and Developmental Biology
|
March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>
Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability
Ilaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
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Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Archives of Disease in Childhood
|
October 31, 2013
Next-generation sequencing in childhood disorders
Ricardo Parolin Schnekenberg, Andrea H Németh
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 11, 2025
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project
Alessandro Bertini, Stefano Facchini, Ilaria Quartesan, et al.
American Journal of Human Genetics
|
September 9, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
Lancet Regional Health. Americas
|
October 13, 2025
Regional and national estimates of children affected by all-cause and COVID-19-associated orphanhood and caregiver death in Brazil, by age and family circumstance: a modeling study
Nicholas Steyn, H Juliette T Unwin, Jamie Ponmattam, et al.
Brain : a Journal of Neurology
|
May 19, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg, Emma M Perkins, Jack W Miller, et al.
Brain : a Journal of Neurology
|
September 14, 2013
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H Németh, Alexandra C Kwasniewska, Stefano Lise, et al.
Plos Genetics
|
December 14, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development
Stefano Lise, Yvonne Clarkson, Emma Perkins, et al.
Frontiers in Cell and Developmental Biology
|
March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>
Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability
Ilaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
Page
of 2