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Orphanet Journal of Rare Diseases
|
February 26, 2025
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities
James Dempsey, Jessica Daniels, Roulla Katiri, et al.
Human Molecular Genetics
|
August 12, 2008
Human neural crest cells display molecular and phenotypic hallmarks of stem cells
Sophie Thomas, Marie Thomas, Patrick Wincker, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
Chloé Quélin, Philippe Loget, Lucile Boutaud, et al.
Pediatric Blood & Cancer
|
February 3, 2023
Transatlantic progress in measurement of cognitive outcomes in paediatric oncology trials
Sophie Thomas, Leanne Embry, Karin Walsh, et al.
Frontiers in Neurology
|
June 20, 2022
Toward Improved Diagnosis Accuracy and Treatment of Children, Adolescents, and Young Adults With Ependymoma: The International SIOP Ependymoma II Protocol
Pierre Leblond, Maura Massimino, Martin English, et al.
Frontiers in Neuroscience
|
April 16, 2026
The impact of the Lab4 probiotic on neurodegenerative processes in a murine Alzheimer's disease model
Timothy R Hughes, Thomas S Webberley, Daniel John, et al.
European Journal of Human Genetics : EJHG
|
February 15, 2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
David Haïm, Nathalie Roux, Lucile Boutaud, et al.
Nature Communications
|
April 5, 2025
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
Antonia Wiegering, Isabelle Anselme, Ludovica Brunetti, et al.
Human Molecular Genetics
|
May 18, 2018
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease
Iris Barny, Isabelle Perrault, Christel Michel, et al.
BMJ Open
|
June 3, 2021
Acceptance and commitment therapy for young brain tumour survivors: study protocol for an acceptability and feasibility trial
Sam Malins, Ray Owen, Ingram Wright, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 83) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
February 26, 2025
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities
James Dempsey, Jessica Daniels, Roulla Katiri, et al.
Human Molecular Genetics
|
August 12, 2008
Human neural crest cells display molecular and phenotypic hallmarks of stem cells
Sophie Thomas, Marie Thomas, Patrick Wincker, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2018
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
Chloé Quélin, Philippe Loget, Lucile Boutaud, et al.
Pediatric Blood & Cancer
|
February 3, 2023
Transatlantic progress in measurement of cognitive outcomes in paediatric oncology trials
Sophie Thomas, Leanne Embry, Karin Walsh, et al.
Frontiers in Neurology
|
June 20, 2022
Toward Improved Diagnosis Accuracy and Treatment of Children, Adolescents, and Young Adults With Ependymoma: The International SIOP Ependymoma II Protocol
Pierre Leblond, Maura Massimino, Martin English, et al.
Frontiers in Neuroscience
|
April 16, 2026
The impact of the Lab4 probiotic on neurodegenerative processes in a murine Alzheimer's disease model
Timothy R Hughes, Thomas S Webberley, Daniel John, et al.
European Journal of Human Genetics : EJHG
|
February 15, 2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
David Haïm, Nathalie Roux, Lucile Boutaud, et al.
Nature Communications
|
April 5, 2025
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification
Antonia Wiegering, Isabelle Anselme, Ludovica Brunetti, et al.
Human Molecular Genetics
|
May 18, 2018
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease
Iris Barny, Isabelle Perrault, Christel Michel, et al.
BMJ Open
|
June 3, 2021
Acceptance and commitment therapy for young brain tumour survivors: study protocol for an acceptability and feasibility trial
Sam Malins, Ray Owen, Ingram Wright, et al.
Page
of 9