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Epilepsia
|
January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy
Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Thomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
Biomedicines
|
October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Jan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Annals of Clinical and Translational Neurology
|
April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice
Milka Pringsheim, Diana Mitter, Simone Schröder, et al.
Vaccine
|
August 21, 2018
Narcolepsy and adjuvanted pandemic influenza A (H1N1) 2009 vaccines - Multi-country assessment
Daniel Weibel, Miriam Sturkenboom, Steven Black, et al.
Neurology
|
July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>
Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Nature Genetics
|
August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
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Search research articles
Search
Showing results (51-60 of 57) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 57 results.
Epilepsia
|
January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy
Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Thomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
Biomedicines
|
October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Jan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Annals of Clinical and Translational Neurology
|
April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice
Milka Pringsheim, Diana Mitter, Simone Schröder, et al.
Vaccine
|
August 21, 2018
Narcolepsy and adjuvanted pandemic influenza A (H1N1) 2009 vaccines - Multi-country assessment
Daniel Weibel, Miriam Sturkenboom, Steven Black, et al.
Neurology
|
July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>
Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Nature Genetics
|
August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.
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of 6