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Matthew B Johnson

Showing results (81-90 of 103) with videos related to

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Nature Communications|October 14, 2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceKashyap A Patel, Jarno Kettunen, Markku Laakso, et al.
Ebiomedicine|May 25, 2026
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNAJasmin J Bennett, Thomas W Laver, Jonna M E Männistö, et al.
Pediatric Diabetes|March 16, 2022
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this groupThomas I Hewat, Thomas W Laver, Jayne A L Houghton, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|August 31, 2025
Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variantsRussell Donis, Matthew N Wakeling, Nicola Jeffery, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic AnalysesJonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.
Science (New York, N.Y.)|February 18, 2014
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterningByoung-Il Bae, Ian Tietjen, Kutay D Atabay, et al.
Diabetologia|October 23, 2021
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinicsKashyap A Patel, Mehmet N Ozbek, Melek Yildiz, et al.
Journal of Immunology (Baltimore, Md. : 1950)|September 17, 2020
A Complement C3-Specific Nanobody for Modulation of the Alternative Cascade Identifies the C-Terminal Domain of C3b as Functional in C5 Convertase ActivityHenrik Pedersen, Rasmus K Jensen, Jens Magnus B Jensen, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 27, 2015
Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF productionMelody P Lun, Matthew B Johnson, Kevin G Broadbelt, et al.
Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
Pageof 11

Showing results (81-90 of 103) with videos related to

Sort By:
Pageof 11
Nature Communications|October 14, 2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceKashyap A Patel, Jarno Kettunen, Markku Laakso, et al.
Ebiomedicine|May 25, 2026
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNAJasmin J Bennett, Thomas W Laver, Jonna M E Männistö, et al.
Pediatric Diabetes|March 16, 2022
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this groupThomas I Hewat, Thomas W Laver, Jayne A L Houghton, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|August 31, 2025
Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variantsRussell Donis, Matthew N Wakeling, Nicola Jeffery, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic AnalysesJonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.
Science (New York, N.Y.)|February 18, 2014
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterningByoung-Il Bae, Ian Tietjen, Kutay D Atabay, et al.
Diabetologia|October 23, 2021
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinicsKashyap A Patel, Mehmet N Ozbek, Melek Yildiz, et al.
Journal of Immunology (Baltimore, Md. : 1950)|September 17, 2020
A Complement C3-Specific Nanobody for Modulation of the Alternative Cascade Identifies the C-Terminal Domain of C3b as Functional in C5 Convertase ActivityHenrik Pedersen, Rasmus K Jensen, Jens Magnus B Jensen, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 27, 2015
Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF productionMelody P Lun, Matthew B Johnson, Kevin G Broadbelt, et al.
Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
Pageof 11