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R Lemke

Showing results (231-240 of 284) with videos related to

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Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Ebiomedicine|July 12, 2024
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsNazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, et al.
Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.
Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
Biomedicines|October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodJan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
Pageof 29

Showing results (231-240 of 284) with videos related to

Sort By:
Pageof 29
Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Ebiomedicine|July 12, 2024
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variantsNazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, et al.
Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.
JAMA Neurology|August 15, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and PhenotypesCarolien G F de Kovel, Steffen Syrbe, Eva H Brilstra, et al.
Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
Biomedicines|October 31, 2020
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in ChildhoodJan Henje Döring, Afshin Saffari, Thomas Bast, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation studyLucy Loong, Agostina Tardivo, Alexej Knaus, et al.
Pageof 29