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American Journal of Medical Genetics. Part A
|
December 6, 2011
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
Moneef Shoukier, Julia Wickert, Julia Schröder, et al.
Neuropsychologia
|
September 28, 2025
Source reconstruction of clinical resting-state EEG reveals differences in power and functional connectivity in children with developmental dyslexia
David Garnica-Agudelo, Stuart D W Smith, Daniel van de Velden, et al.
Journal of Medical Genetics
|
August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Silke Pauli, Janine Altmüller, Simone Schröder, et al.
Journal of Neurology
|
April 22, 2008
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations
Knut Brockmann, Steffi Dreha-Kulaczewski, Peter Dechent, et al.
The Lancet. Neurology
|
August 2, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, et al.
Endocrine Connections
|
October 19, 2019
Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany
Elin Kahlert, Martina Blaschke, Knut Brockmann, et al.
Neuroepidemiology
|
July 2, 2020
Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study
Sigrid Claudia Disse, Sandra P Toelle, Simone Schroeder, et al.
Neurology
|
February 14, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disorders
Hendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, et al.
Frontiers in Neuroscience
|
September 26, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain
Jianying Huang, Mark Estacion, Peng Zhao, et al.
European Journal of Pediatrics
|
December 18, 2002
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy
Matthias Baumann, G Christoph Korenke, Almuth Weddige-Diedrichs, et al.
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of 13
Search research articles
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Showing results (61-70 of 125) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
December 6, 2011
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
Moneef Shoukier, Julia Wickert, Julia Schröder, et al.
Neuropsychologia
|
September 28, 2025
Source reconstruction of clinical resting-state EEG reveals differences in power and functional connectivity in children with developmental dyslexia
David Garnica-Agudelo, Stuart D W Smith, Daniel van de Velden, et al.
Journal of Medical Genetics
|
August 19, 2018
Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Silke Pauli, Janine Altmüller, Simone Schröder, et al.
Journal of Neurology
|
April 22, 2008
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations
Knut Brockmann, Steffi Dreha-Kulaczewski, Peter Dechent, et al.
The Lancet. Neurology
|
August 2, 2012
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, et al.
Endocrine Connections
|
October 19, 2019
Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany
Elin Kahlert, Martina Blaschke, Knut Brockmann, et al.
Neuroepidemiology
|
July 2, 2020
Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study
Sigrid Claudia Disse, Sandra P Toelle, Simone Schroeder, et al.
Neurology
|
February 14, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disorders
Hendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, et al.
Frontiers in Neuroscience
|
September 26, 2019
A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain
Jianying Huang, Mark Estacion, Peng Zhao, et al.
European Journal of Pediatrics
|
December 18, 2002
Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy
Matthias Baumann, G Christoph Korenke, Almuth Weddige-Diedrichs, et al.
Page
of 13