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JIMD Reports
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December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Genome Research
|
April 18, 2015
Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins
Eric T Wang, Amanda J Ward, Jennifer M Cherone, et al.
European Urology Oncology
|
September 25, 2019
Avoiding Unnecessary Magnetic Resonance Imaging (MRI) and Biopsies: Negative and Positive Predictive Value of MRI According to Prostate-specific Antigen Density, 4Kscore and Risk Calculators
Ugo Giovanni Falagario, Alberto Martini, Ethan Wajswol, et al.
Molecular Genetics and Metabolism
|
December 3, 2011
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
K P Coss, J C Byrne, D J Coman, et al.
Journal of Medical Genetics
|
January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, et al.
Journal of Medical Genetics
|
September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
J Uusimaa, H Jungbluth, C Fratter, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
February 11, 2017
Outbreak of hepatitis A associated with men who have sex with men (MSM), England, July 2016 to January 2017
Kazim Beebeejaun, Srilaxmi Degala, Koye Balogun, et al.
Communications Biology
|
November 26, 2022
Single-cell multiomics reveals the complexity of TGFβ signalling to chromatin in iPSC-derived kidney organoids
Jessica L Davis, Ciaran Kennedy, Shane Clerkin, et al.
American Journal of Medical Genetics. Part A
|
October 22, 2008
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
Phillip Lee, Eileen P Treacy, Eric Crombez, et al.
Human Reproduction Update
|
December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemia
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Page
of 69
Search research articles
Search
Showing results (581-590 of 682) with videos related to
Sort By:
Page
of 69
JIMD Reports
|
December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
Britt van Erven, Lindsey Welling, Sandra C van Calcar, et al.
Genome Research
|
April 18, 2015
Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins
Eric T Wang, Amanda J Ward, Jennifer M Cherone, et al.
European Urology Oncology
|
September 25, 2019
Avoiding Unnecessary Magnetic Resonance Imaging (MRI) and Biopsies: Negative and Positive Predictive Value of MRI According to Prostate-specific Antigen Density, 4Kscore and Risk Calculators
Ugo Giovanni Falagario, Alberto Martini, Ethan Wajswol, et al.
Molecular Genetics and Metabolism
|
December 3, 2011
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
K P Coss, J C Byrne, D J Coman, et al.
Journal of Medical Genetics
|
January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, et al.
Journal of Medical Genetics
|
September 21, 2011
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
J Uusimaa, H Jungbluth, C Fratter, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
February 11, 2017
Outbreak of hepatitis A associated with men who have sex with men (MSM), England, July 2016 to January 2017
Kazim Beebeejaun, Srilaxmi Degala, Koye Balogun, et al.
Communications Biology
|
November 26, 2022
Single-cell multiomics reveals the complexity of TGFβ signalling to chromatin in iPSC-derived kidney organoids
Jessica L Davis, Ciaran Kennedy, Shane Clerkin, et al.
American Journal of Medical Genetics. Part A
|
October 22, 2008
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
Phillip Lee, Eileen P Treacy, Eric Crombez, et al.
Human Reproduction Update
|
December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemia
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Page
of 69