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Pagnamenta

Showing results (221-230 of 265) with videos related to

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Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Nature Genetics|October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopiaLoïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Pageof 27

Showing results (221-230 of 265) with videos related to

Sort By:
Pageof 27
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Nature Genetics|October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopiaLoïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Brain Communications|November 6, 2024
Autosomal recessive <i>VWA1</i>-related disorder: comprehensive analysis of phenotypic variability and genetic mutationsSara Nagy, Alistair T Pagnamenta, Elisa Cali, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Pageof 27