Search research articles
Contact Us
Filters
Showing results (1-10 of 17) with videos related to
Page
of 2
Sort By:
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 18, 2016
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome
Janina Gburek-Augustat, Stefanie Beck-Woedl, Andreas Tzschach, et al.
Pediatrics
|
April 4, 2018
Blue Diaper Syndrome and <i>PCSK1</i> Mutations
Felix Distelmaier, Diran Herebian, Claudia Atasever, et al.
Neuropediatrics
|
October 23, 2019
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C
Janina Gburek-Augustat, Samuel Groeschel, Jan Kern, et al.
American Journal of Medical Genetics. Part A
|
July 19, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
Louiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, et al.
JIMD Reports
|
July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Journal of Neuromuscular Diseases
|
June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Alexander Mensch, Isabell Cordts, Leila Scholle, et al.
Human Mutation
|
June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
Francesca Semino, Julian Schröter, Marjolein H Willemsen, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2011
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Ute Grasshoff, Michael Bonin, Ina Goehring, et al.
Journal of Human Genetics
|
April 25, 2019
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
Björn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, et al.
Annals of Clinical and Translational Neurology
|
October 1, 2025
The Diverse Neuromuscular Spectrum of VPS13A Disease
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 18, 2016
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome
Janina Gburek-Augustat, Stefanie Beck-Woedl, Andreas Tzschach, et al.
Pediatrics
|
April 4, 2018
Blue Diaper Syndrome and <i>PCSK1</i> Mutations
Felix Distelmaier, Diran Herebian, Claudia Atasever, et al.
Neuropediatrics
|
October 23, 2019
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C
Janina Gburek-Augustat, Samuel Groeschel, Jan Kern, et al.
American Journal of Medical Genetics. Part A
|
July 19, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
Louiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, et al.
JIMD Reports
|
July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Journal of Neuromuscular Diseases
|
June 13, 2022
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
Alexander Mensch, Isabell Cordts, Leila Scholle, et al.
Human Mutation
|
June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
Francesca Semino, Julian Schröter, Marjolein H Willemsen, et al.
European Journal of Human Genetics : EJHG
|
February 18, 2011
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Ute Grasshoff, Michael Bonin, Ina Goehring, et al.
Journal of Human Genetics
|
April 25, 2019
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
Björn Fischer-Zirnsak, Rainer Koenig, Franz Alisch, et al.
Annals of Clinical and Translational Neurology
|
October 1, 2025
The Diverse Neuromuscular Spectrum of VPS13A Disease
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, et al.
Page
of 2