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Molecular Genetics and Metabolism
|
October 29, 2025
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia
Liene Thys, Diane Beysen, Katrien Janssens, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 2, 2026
Climate change and pediatric neurology: A call to action
Thomas Foiadelli, Tessa Wassenberg, Ivan Janssens, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2018
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1
Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
Ibrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.
Human Genetics
|
July 20, 2014
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
Nathalie Fieremans, Marijke Bauters, Stefanie Belet, et al.
Developmental Medicine and Child Neurology
|
October 3, 2021
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study
Jessie De Ridder, Katarzyna Kotulska, Paolo Curatolo, et al.
Journal of Child Neurology
|
October 5, 2020
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations
Aglaë Blauen, Chloe A Stutterd, Katrien Stouffs, et al.
Journal of Intellectual Disability Research : JIDR
|
February 14, 2025
Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis
Esra Kınacı-Biber, Lis Gys, Anna C Jansen, et al.
Plos One
|
June 12, 2025
Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Agnies M van Eeghen, Elizabeth A Thiele, Sam Amin, et al.
European Journal of Medical Genetics
|
June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations
Katrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
Page
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Search research articles
Search
Showing results (21-30 of 97) with videos related to
Sort By:
Page
of 10
Molecular Genetics and Metabolism
|
October 29, 2025
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia
Liene Thys, Diane Beysen, Katrien Janssens, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 2, 2026
Climate change and pediatric neurology: A call to action
Thomas Foiadelli, Tessa Wassenberg, Ivan Janssens, et al.
European Journal of Human Genetics : EJHG
|
May 1, 2018
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1
Stefanie Brock, Katrien Stouffs, Emmanuel Scalais, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
Ibrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.
Human Genetics
|
July 20, 2014
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
Nathalie Fieremans, Marijke Bauters, Stefanie Belet, et al.
Developmental Medicine and Child Neurology
|
October 3, 2021
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study
Jessie De Ridder, Katarzyna Kotulska, Paolo Curatolo, et al.
Journal of Child Neurology
|
October 5, 2020
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations
Aglaë Blauen, Chloe A Stutterd, Katrien Stouffs, et al.
Journal of Intellectual Disability Research : JIDR
|
February 14, 2025
Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis
Esra Kınacı-Biber, Lis Gys, Anna C Jansen, et al.
Plos One
|
June 12, 2025
Protocol for EpiCom: A phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Agnies M van Eeghen, Elizabeth A Thiele, Sam Amin, et al.
European Journal of Medical Genetics
|
June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations
Katrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
Page
of 10