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Journal of Medical Genetics
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January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
Lottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.
Neurology. Genetics
|
April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P L Marsh, Vesna Lukic, Kate Pope, et al.
European Stroke Journal
|
January 30, 2026
Development of a blood-based lipidomic fat quality score for the risk of ischemic stroke
Iolanda Lázaro, Leila Luján-Barroso, Natalia Soldevila-Domenech, et al.
Diabetes Research and Clinical Practice
|
November 7, 2021
Impact of insulin therapy before donation on graft outcomes in pancreas transplantation: An analysis of the OPTN/UNOS database
Enrique Montagud-Marrahi, Antonio J Amor, Alicia Molina-Andujar, et al.
Molecular Cell
|
November 23, 2016
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair
Bruno Vaz, Marta Popovic, Joseph A Newman, et al.
Scientific Reports
|
December 24, 2025
Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome
Shokouh Shahrokhi, Emma K Baker, Michael See, et al.
Diabetes Care
|
September 16, 2015
Mediterranean Diet, Retinopathy, Nephropathy, and Microvascular Diabetes Complications: A Post Hoc Analysis of a Randomized Trial
Andrés Díaz-López, Nancy Babio, Miguel A Martínez-González, et al.
American Journal of Medical Genetics. Part A
|
November 9, 2022
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Emma K Baker, Marta Arpone, Minh Bui, et al.
Developmental Medicine and Child Neurology
|
March 21, 2022
Self-reported impact of developmental stuttering across the lifespan
Jessica O Boyce, Victoria E Jackson, Olivia van Reyk, et al.
Scientific Reports
|
July 18, 2020
FMR1 mRNA from full mutation alleles is associated with ABC-C<sub>FX</sub> scores in males with fragile X syndrome
Emma K Baker, Marta Arpone, Claudine Kraan, et al.
Page
of 43
Search research articles
Search
Showing results (321-330 of 430) with videos related to
Sort By:
Page
of 43
Journal of Medical Genetics
|
January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
Lottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.
Neurology. Genetics
|
April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
Ashley P L Marsh, Vesna Lukic, Kate Pope, et al.
European Stroke Journal
|
January 30, 2026
Development of a blood-based lipidomic fat quality score for the risk of ischemic stroke
Iolanda Lázaro, Leila Luján-Barroso, Natalia Soldevila-Domenech, et al.
Diabetes Research and Clinical Practice
|
November 7, 2021
Impact of insulin therapy before donation on graft outcomes in pancreas transplantation: An analysis of the OPTN/UNOS database
Enrique Montagud-Marrahi, Antonio J Amor, Alicia Molina-Andujar, et al.
Molecular Cell
|
November 23, 2016
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair
Bruno Vaz, Marta Popovic, Joseph A Newman, et al.
Scientific Reports
|
December 24, 2025
Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome
Shokouh Shahrokhi, Emma K Baker, Michael See, et al.
Diabetes Care
|
September 16, 2015
Mediterranean Diet, Retinopathy, Nephropathy, and Microvascular Diabetes Complications: A Post Hoc Analysis of a Randomized Trial
Andrés Díaz-López, Nancy Babio, Miguel A Martínez-González, et al.
American Journal of Medical Genetics. Part A
|
November 9, 2022
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Emma K Baker, Marta Arpone, Minh Bui, et al.
Developmental Medicine and Child Neurology
|
March 21, 2022
Self-reported impact of developmental stuttering across the lifespan
Jessica O Boyce, Victoria E Jackson, Olivia van Reyk, et al.
Scientific Reports
|
July 18, 2020
FMR1 mRNA from full mutation alleles is associated with ABC-C<sub>FX</sub> scores in males with fragile X syndrome
Emma K Baker, Marta Arpone, Claudine Kraan, et al.
Page
of 43