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Molecular Genetics and Metabolism
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February 5, 2013
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings
Chitra Prasad, Serge B Melançon, C Anthony Rupar, et al.
Journal of Clinical Nursing
|
July 22, 2014
'Seeing me through my memories': a grounded theory study on using reminiscence with people with dementia living in long-term care
Adeline Cooney, Andrew Hunter, Kathy Murphy, et al.
Frontiers in Neuroscience
|
May 5, 2020
Sleep State Modulates Resting-State Functional Connectivity in Neonates
Chuen Wai Lee, Borja Blanco, Laura Dempsey, et al.
Journal of Clinical Nursing
|
December 18, 2012
Developing a structured education reminiscence-based programme for staff in long-stay care facilities in Ireland
Adeline Cooney, Eamon O'Shea, Dympna Casey, et al.
Journal of Medical Genetics
|
August 5, 2011
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
David Watkins, Jeremy A Schwartzentruber, Jaya Ganesh, et al.
Biomedical Optics Express
|
November 22, 2016
Functional imaging of the human brain using a modular, fibre-less, high-density diffuse optical tomography system
Danial Chitnis, Robert J Cooper, Laura Dempsey, et al.
Molecular Genetics and Metabolism
|
October 3, 2012
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria
Laura Dempsey-Nunez, Margaret L Illson, Jana Kent, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2016
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A
Swati Gupta, Somayyeh Fahiminiya, Tracy Wang, et al.
Journal of Medical Genetics
|
July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Molecular Genetics and Metabolism
|
May 28, 2013
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria
Margaret L Illson, Laura Dempsey-Nunez, Jana Kent, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
February 5, 2013
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings
Chitra Prasad, Serge B Melançon, C Anthony Rupar, et al.
Journal of Clinical Nursing
|
July 22, 2014
'Seeing me through my memories': a grounded theory study on using reminiscence with people with dementia living in long-term care
Adeline Cooney, Andrew Hunter, Kathy Murphy, et al.
Frontiers in Neuroscience
|
May 5, 2020
Sleep State Modulates Resting-State Functional Connectivity in Neonates
Chuen Wai Lee, Borja Blanco, Laura Dempsey, et al.
Journal of Clinical Nursing
|
December 18, 2012
Developing a structured education reminiscence-based programme for staff in long-stay care facilities in Ireland
Adeline Cooney, Eamon O'Shea, Dympna Casey, et al.
Journal of Medical Genetics
|
August 5, 2011
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
David Watkins, Jeremy A Schwartzentruber, Jaya Ganesh, et al.
Biomedical Optics Express
|
November 22, 2016
Functional imaging of the human brain using a modular, fibre-less, high-density diffuse optical tomography system
Danial Chitnis, Robert J Cooper, Laura Dempsey, et al.
Molecular Genetics and Metabolism
|
October 3, 2012
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria
Laura Dempsey-Nunez, Margaret L Illson, Jana Kent, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2016
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A
Swati Gupta, Somayyeh Fahiminiya, Tracy Wang, et al.
Journal of Medical Genetics
|
July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Molecular Genetics and Metabolism
|
May 28, 2013
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria
Margaret L Illson, Laura Dempsey-Nunez, Jana Kent, et al.
Page
of 4