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Genome Medicine
|
January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Neurology
|
July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Hannah Stamberger, David Crosiers, Ganna Balagura, et al.
Journal of Medical Genetics
|
March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Cyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Epilepsia
|
April 11, 2019
The spectrum of intermediate SCN8A-related epilepsy
Katrine M Johannesen, Elena Gardella, Alejandra C Encinas, 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.
Annals of Neurology
|
October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
Human Genetics
|
March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne, Caroline Nava, Boris Keren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Hannah Stamberger, Trine B Hammer, Elena Gardella, et al.
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Search research articles
Search
Showing results (31-40 of 38) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 38 results.
Genome Medicine
|
January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Neurology
|
July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Hannah Stamberger, David Crosiers, Ganna Balagura, et al.
Journal of Medical Genetics
|
March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Cyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Epilepsia
|
April 11, 2019
The spectrum of intermediate SCN8A-related epilepsy
Katrine M Johannesen, Elena Gardella, Alejandra C Encinas, 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.
Annals of Neurology
|
October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
Human Genetics
|
March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne, Caroline Nava, Boris Keren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Hannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Page
of 4