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E Scheffer

Showing results (151-160 of 740) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 19, 2023
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variantsAhmed N Sahly, Myriam Srour, Daniela Buhas, et al.
Journal of Autism and Developmental Disorders|June 24, 2018
Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism PhenotypeValerie M Z Yap, Neil M McLachlan, Ingrid E Scheffer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 2, 2021
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variantsAbdulla Alawadhi, Angela T Morgan, Bettina E Mucha, et al.
Stem Cell Research|August 19, 2023
Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na<sub>v</sub>1.2 protein encoded by the SCN2A geneD A Ovchinnikov, S Jong, C Cuddy, et al.
Epilepsia|May 10, 2000
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsyO K Steinlein, J Stoodt, J Mulley, et al.
Current Problems in Dermatology|January 1, 1990
Cutaneous large cell lymphomas of T cell origin: diagnosis, classification and prognostic parametersR C Beljaards, C J Meijer, E Scheffer, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 11, 2000
Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanismsR Singh, R A Macdonell, I E Scheffer, et al.
The Lancet. Neurology|November 25, 2015
The genetic landscape of the epileptic encephalopathies of infancy and childhoodAmy McTague, Katherine B Howell, J Helen Cross, et al.
Epilepsia|May 25, 2007
Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?Isabella Taylor, Bree Hodgson, Ingrid E Scheffer, et al.
Neuropediatrics|May 1, 1991
Pelizaeus-Merzbacher disease: classical or connatal?I E Scheffer, M Baraitser, J Wilson, et al.
Pageof 74

Showing results (151-160 of 740) with videos related to

Sort By:
Pageof 74
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 19, 2023
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variantsAhmed N Sahly, Myriam Srour, Daniela Buhas, et al.
Journal of Autism and Developmental Disorders|June 24, 2018
Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism PhenotypeValerie M Z Yap, Neil M McLachlan, Ingrid E Scheffer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 2, 2021
Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variantsAbdulla Alawadhi, Angela T Morgan, Bettina E Mucha, et al.
Stem Cell Research|August 19, 2023
Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na<sub>v</sub>1.2 protein encoded by the SCN2A geneD A Ovchinnikov, S Jong, C Cuddy, et al.
Epilepsia|May 10, 2000
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsyO K Steinlein, J Stoodt, J Mulley, et al.
Current Problems in Dermatology|January 1, 1990
Cutaneous large cell lymphomas of T cell origin: diagnosis, classification and prognostic parametersR C Beljaards, C J Meijer, E Scheffer, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 11, 2000
Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanismsR Singh, R A Macdonell, I E Scheffer, et al.
The Lancet. Neurology|November 25, 2015
The genetic landscape of the epileptic encephalopathies of infancy and childhoodAmy McTague, Katherine B Howell, J Helen Cross, et al.
Epilepsia|May 25, 2007
Is photosensitive epilepsy less common in males due to variation in X chromosome photopigment genes?Isabella Taylor, Bree Hodgson, Ingrid E Scheffer, et al.
Neuropediatrics|May 1, 1991
Pelizaeus-Merzbacher disease: classical or connatal?I E Scheffer, M Baraitser, J Wilson, et al.
Pageof 74