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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 17, 2004
Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency
M A Kurian, E S O'Mahoney, P Rustin, et al.
JIMD Reports
|
June 27, 2019
Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency
Karolina M Stepien, Wolfgang M Schmidt, Reginald E Bittner, et al.
Retina (Philadelphia, Pa.)
|
February 13, 2022
Direct Exchange of PerfluoroCarbon Liquid for Silicone Oil: A Surgical Technique to Control Pressure and Avoid Retinal Slippage
Maxwell P Treacy, Marcus P Conway, Mohammad Al Hammoud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 21, 2001
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia
V Westphal, S Peterson, M Patterson, et al.
The British Journal of Ophthalmology
|
July 1, 2015
Corneal inlay implantation complicated by infectious keratitis
Emma S Duignan, Stephen Farrell, Maxwell P Treacy, et al.
European Journal of Ophthalmology
|
December 23, 2015
Opportunistic detection of glaucomatous optic discs within a diabetic retinopathy screening service
Maxwell P Treacy, Evelyn C O'Neill, Melissa Murphy, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2018
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
Michel van Weeghel, Lindsey Welling, Eileen P Treacy, et al.
JIMD Reports
|
October 15, 2017
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria
S Doyle, M O'Regan, C Stenson, et al.
JIMD Reports
|
February 23, 2013
Leptin levels in children and adults with classic galactosaemia
Ina Knerr, Karen P Coss, Peter P Doran, et al.
Molecular Genetics and Metabolism
|
July 20, 2001
In vivo variability of TMA oxidation is partially mediated by polymorphisms of the FMO3 gene
D M Lambert, O A Mamer, B R Akerman, et al.
Page
of 10
Search research articles
Search
Showing results (41-50 of 100) with videos related to
Sort By:
Page
of 10
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 17, 2004
Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency
M A Kurian, E S O'Mahoney, P Rustin, et al.
JIMD Reports
|
June 27, 2019
Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency
Karolina M Stepien, Wolfgang M Schmidt, Reginald E Bittner, et al.
Retina (Philadelphia, Pa.)
|
February 13, 2022
Direct Exchange of PerfluoroCarbon Liquid for Silicone Oil: A Surgical Technique to Control Pressure and Avoid Retinal Slippage
Maxwell P Treacy, Marcus P Conway, Mohammad Al Hammoud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 21, 2001
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia
V Westphal, S Peterson, M Patterson, et al.
The British Journal of Ophthalmology
|
July 1, 2015
Corneal inlay implantation complicated by infectious keratitis
Emma S Duignan, Stephen Farrell, Maxwell P Treacy, et al.
European Journal of Ophthalmology
|
December 23, 2015
Opportunistic detection of glaucomatous optic discs within a diabetic retinopathy screening service
Maxwell P Treacy, Evelyn C O'Neill, Melissa Murphy, et al.
Orphanet Journal of Rare Diseases
|
August 26, 2018
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
Michel van Weeghel, Lindsey Welling, Eileen P Treacy, et al.
JIMD Reports
|
October 15, 2017
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria
S Doyle, M O'Regan, C Stenson, et al.
JIMD Reports
|
February 23, 2013
Leptin levels in children and adults with classic galactosaemia
Ina Knerr, Karen P Coss, Peter P Doran, et al.
Molecular Genetics and Metabolism
|
July 20, 2001
In vivo variability of TMA oxidation is partially mediated by polymorphisms of the FMO3 gene
D M Lambert, O A Mamer, B R Akerman, et al.
Page
of 10