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JIMD Reports
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June 27, 2019
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review
Catherine Goudie, Abdulfatah M Alayoubi, Pauline Tibout, et al.
Medicine
|
December 30, 2014
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort
Isabel Fernandez, Natalie Patey, Valérie Marchand, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots
Michel Boutin, Pamela Lavoie, Margot Beaudon, et al.
JIMD Reports
|
November 6, 2023
A case of hyperlysinemia identified by urine newborn screening
Mehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
Molecular Genetics & Genomic Medicine
|
October 27, 2019
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec
Paula J Waters, Baiba Lace, Daniela Buhas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2018
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
Fanny Thuriot, Caroline Buote, Elaine Gravel, et al.
Analytica Chimica Acta
|
August 28, 2016
UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses
Christiane Auray-Blais, Pamela Lavoie, Shunji Tomatsu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 31, 2012
An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper
Christiane Auray-Blais, Pamela Lavoie, Haoyue Zhang, et al.
Bioanalysis
|
February 4, 2022
Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders
Marcel A Kelkel, Michel Boutin, Filipa Curado, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
Marwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 63) with videos related to
Sort By:
Page
of 7
JIMD Reports
|
June 27, 2019
Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review
Catherine Goudie, Abdulfatah M Alayoubi, Pauline Tibout, et al.
Medicine
|
December 30, 2014
Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort
Isabel Fernandez, Natalie Patey, Valérie Marchand, et al.
International Journal of Molecular Sciences
|
February 25, 2023
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots
Michel Boutin, Pamela Lavoie, Margot Beaudon, et al.
JIMD Reports
|
November 6, 2023
A case of hyperlysinemia identified by urine newborn screening
Mehdi Yeganeh, Christiane Auray-Blais, Bruno Maranda, et al.
Molecular Genetics & Genomic Medicine
|
October 27, 2019
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec
Paula J Waters, Baiba Lace, Daniela Buhas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2018
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
Fanny Thuriot, Caroline Buote, Elaine Gravel, et al.
Analytica Chimica Acta
|
August 28, 2016
UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses
Christiane Auray-Blais, Pamela Lavoie, Shunji Tomatsu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 31, 2012
An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper
Christiane Auray-Blais, Pamela Lavoie, Haoyue Zhang, et al.
Bioanalysis
|
February 4, 2022
Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders
Marcel A Kelkel, Michel Boutin, Filipa Curado, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2011
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
Marwan Shinawi, Trilochan Sahoo, Bruno Maranda, et al.
Page
of 7