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Neurology. Genetics
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October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile Epilepsy
Jan H Döring, Afshin Saffari, Thomas Bast, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
August 31, 2024
A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values
Marina Zeldovich, Leonie Krol, Inga K Koerte, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2016
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
Sarah Wente, Simone Schröder, Johannes Buckard, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
December 3, 2024
Correction: A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values
Marina Zeldovich, Leonie Krol, Inga K Koerte, et al.
Human Molecular Genetics
|
December 17, 2013
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
Yaqun Zou, Daniela Zwolanek, Yayoi Izu, et al.
Journal of Clinical Medicine
|
June 28, 2023
A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury
Nicole von Steinbuechel, Ugne Krenz, Fabian Bockhop, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, et al.
American Journal of Human Genetics
|
August 24, 2010
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
Mary C O'Driscoll, Sarah B Daly, Jill E Urquhart, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Nina-Maria Wilpert, Angela L Hewitt, Roser Pons, et al.
Children (Basel, Switzerland)
|
April 27, 2024
Final Validation of the Quality of Life after Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire
Nicole von Steinbuechel, Marina Zeldovich, Dagmar Timmermann, et al.
Page
of 13
Search research articles
Search
Showing results (91-100 of 125) with videos related to
Sort By:
Page
of 13
Neurology. Genetics
|
October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile Epilepsy
Jan H Döring, Afshin Saffari, Thomas Bast, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
August 31, 2024
A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values
Marina Zeldovich, Leonie Krol, Inga K Koerte, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2016
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
Sarah Wente, Simone Schröder, Johannes Buckard, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
December 3, 2024
Correction: A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values
Marina Zeldovich, Leonie Krol, Inga K Koerte, et al.
Human Molecular Genetics
|
December 17, 2013
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
Yaqun Zou, Daniela Zwolanek, Yayoi Izu, et al.
Journal of Clinical Medicine
|
June 28, 2023
A Multidimensional Approach to Assessing Factors Impacting Health-Related Quality of Life after Pediatric Traumatic Brain Injury
Nicole von Steinbuechel, Ugne Krenz, Fabian Bockhop, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
Simone Schröder, Yun Li, Gökhan Yigit, et al.
American Journal of Human Genetics
|
August 24, 2010
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
Mary C O'Driscoll, Sarah B Daly, Jill E Urquhart, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment
Nina-Maria Wilpert, Angela L Hewitt, Roser Pons, et al.
Children (Basel, Switzerland)
|
April 27, 2024
Final Validation of the Quality of Life after Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire
Nicole von Steinbuechel, Marina Zeldovich, Dagmar Timmermann, et al.
Page
of 13