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Journal of Human Genetics
|
May 20, 2016
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis
Judith Conroy, Nicholas M Allen, Kathleen Gorman, et al.
Stem Cell Research
|
June 17, 2020
Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)
Alessia Arbini, James Gilmore, Mary D King, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 21, 2018
Status dystonicus due to missense variant in ARX: Diagnosis and management
Kathleen M Gorman, Heather Cary, Laura Gaffney, et al.
Archives of Disease in Childhood
|
September 24, 2017
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Eva B Forman, Kathleen M Gorman, Judith Conroy, et al.
Developmental Medicine and Child Neurology
|
January 29, 2022
Response to treatment and outcomes of infantile spasms in Down syndrome
Susan Harvey, Nicholas M Allen, Mary D King, et al.
Epilepsy & Behavior Case Reports
|
August 10, 2016
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder
Nicholas M Allen, Judith Conroy, Thierry Deonna, et al.
Epilepsia
|
December 10, 2015
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion
Nicholas M Allen, Judith Conroy, Amre Shahwan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 25, 2025
Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort
Susan Harvey, Nicholas M Allen, Susan Byrne, et al.
Stem Cell Research
|
February 26, 2020
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
Berta Marcó de la Cruz, Yicheng Ding, Veronica McInerney, et al.
Stem Cell Research
|
February 12, 2021
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)
Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, et al.
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Search research articles
Search
Showing results (41-50 of 56) with videos related to
Sort By:
Page
of 6
Journal of Human Genetics
|
May 20, 2016
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis
Judith Conroy, Nicholas M Allen, Kathleen Gorman, et al.
Stem Cell Research
|
June 17, 2020
Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)
Alessia Arbini, James Gilmore, Mary D King, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 21, 2018
Status dystonicus due to missense variant in ARX: Diagnosis and management
Kathleen M Gorman, Heather Cary, Laura Gaffney, et al.
Archives of Disease in Childhood
|
September 24, 2017
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Eva B Forman, Kathleen M Gorman, Judith Conroy, et al.
Developmental Medicine and Child Neurology
|
January 29, 2022
Response to treatment and outcomes of infantile spasms in Down syndrome
Susan Harvey, Nicholas M Allen, Mary D King, et al.
Epilepsy & Behavior Case Reports
|
August 10, 2016
Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder
Nicholas M Allen, Judith Conroy, Thierry Deonna, et al.
Epilepsia
|
December 10, 2015
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion
Nicholas M Allen, Judith Conroy, Amre Shahwan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 25, 2025
Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort
Susan Harvey, Nicholas M Allen, Susan Byrne, et al.
Stem Cell Research
|
February 26, 2020
Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)
Berta Marcó de la Cruz, Yicheng Ding, Veronica McInerney, et al.
Stem Cell Research
|
February 12, 2021
Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)
Yicheng Ding, Aisling O'Brien, Berta Marcó de la Cruz, et al.
Page
of 6