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Stem Cell Research
|
February 25, 2021
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)
Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, et al.
Science Translational Medicine
|
September 13, 2021
4-Aminopyridine is a promising treatment option for patients with gain-of-function <i>KCNA2</i>-encephalopathy
Ulrike B S Hedrich, Stephan Lauxmann, Markus Wolff, et al.
European Journal of Human Genetics : EJHG
|
April 3, 2020
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
Katherine A Benson, Maire White, Nicholas M Allen, et al.
Brain : a Journal of Neurology
|
October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
Brain : a Journal of Neurology
|
May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
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of 6
Search research articles
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Showing results (51-60 of 56) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 56 results.
Stem Cell Research
|
February 25, 2021
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)
Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, et al.
Science Translational Medicine
|
September 13, 2021
4-Aminopyridine is a promising treatment option for patients with gain-of-function <i>KCNA2</i>-encephalopathy
Ulrike B S Hedrich, Stephan Lauxmann, Markus Wolff, et al.
European Journal of Human Genetics : EJHG
|
April 3, 2020
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability
Katherine A Benson, Maire White, Nicholas M Allen, et al.
Brain : a Journal of Neurology
|
October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
Brain : a Journal of Neurology
|
May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Page
of 6