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European Journal of Human Genetics : EJHG
|
June 7, 2021
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders
Allan Bayat, Sumaiya Iqbal, Kim Borredy, et al.
Biomolecules
|
January 8, 2025
In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder
Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
June 20, 2022
Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center
Allan Bayat, Christina D Fenger, Tanya R Techlo, et al.
Neurology. Genetics
|
December 4, 2023
Adult Phenotype of <i>SYNGAP1</i>-DEE
Marlene Rong, Tim Benke, Quratulain Zulfiqar Ali, et al.
Ebiomedicine
|
April 2, 2025
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction
Peter Kovermann, Allan Bayat, Christina D Fenger, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2018
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Seizure
|
June 27, 2022
Anakinra and tocilizumab in the chronic phase of febrile infection-related epilepsy syndrome (FIRES): Effectiveness and safety from a case-series
Angel Aledo-Serrano, Roshan Hariramani, Alicia Gonzalez-Martinez, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
January 19, 2024
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment
Allan Bayat, Stefano Iavarone, Francesco Miceli, et al.
Disease Models & Mechanisms
|
June 19, 2023
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal
Michaela Omelková, Christina Dühring Fenger, Marta Murray, et al.
Clinical Genetics
|
July 25, 2023
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Allan Bayat, Tobias Lindau, Angel Aledo-Serrano, et al.
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Search research articles
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Showing results (51-60 of 130) with videos related to
Sort By:
Page
of 13
European Journal of Human Genetics : EJHG
|
June 7, 2021
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders
Allan Bayat, Sumaiya Iqbal, Kim Borredy, et al.
Biomolecules
|
January 8, 2025
In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder
Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
June 20, 2022
Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center
Allan Bayat, Christina D Fenger, Tanya R Techlo, et al.
Neurology. Genetics
|
December 4, 2023
Adult Phenotype of <i>SYNGAP1</i>-DEE
Marlene Rong, Tim Benke, Quratulain Zulfiqar Ali, et al.
Ebiomedicine
|
April 2, 2025
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction
Peter Kovermann, Allan Bayat, Christina D Fenger, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2018
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
Margherita Lucia De Bernardi, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
Seizure
|
June 27, 2022
Anakinra and tocilizumab in the chronic phase of febrile infection-related epilepsy syndrome (FIRES): Effectiveness and safety from a case-series
Angel Aledo-Serrano, Roshan Hariramani, Alicia Gonzalez-Martinez, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
January 19, 2024
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment
Allan Bayat, Stefano Iavarone, Francesco Miceli, et al.
Disease Models & Mechanisms
|
June 19, 2023
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal
Michaela Omelková, Christina Dühring Fenger, Marta Murray, et al.
Clinical Genetics
|
July 25, 2023
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Allan Bayat, Tobias Lindau, Angel Aledo-Serrano, et al.
Page
of 13