Search research articles
Contact Us
Filters
Showing results (21-30 of 74) with videos related to
Page
of 8
Sort By:
Annals of Epidemiology
|
January 18, 2016
Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis
Yaya Barry, Christophe Bonaldi, Véronique Goulet, et al.
American Journal of Medical Genetics. Part A
|
July 2, 2015
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation
Laureline Lepais, David Cheillan, Sophie Collardeau Frachon, et al.
Molecular Genetics and Metabolism
|
March 8, 2008
Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice
David Cheillan, Céline Malleval, Jérôme Ausseil, et al.
Journal of Lipid Research
|
May 8, 2024
Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro
Catherine Calzada, David Cheillan, Nina Ritsch, et al.
Cancers
|
October 14, 2022
Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer
Patricia Dubot, Leonardo Astudillo, Nicole Therville, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2016
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Christine Vianey-Saban, Cécile Acquaviva, David Cheillan, et al.
Journal of Neurology
|
May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
Mathilde Renaud, Claire Guissart, Martial Mallaret, et al.
Journal of Inherited Metabolic Disease
|
March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Monique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
International Journal of Neonatal Screening
|
February 22, 2023
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal Screen.</i> 2022, <i>8</i>, 20"
Simon A Jones, David Cheillan, Anupam Chakrapani, et al.
International Journal of Neonatal Screening
|
March 24, 2022
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
Simon A Jones, David Cheillan, Anupam Chakrapani, et al.
Page
of 8
Search research articles
Search
Showing results (21-30 of 74) with videos related to
Sort By:
Page
of 8
Annals of Epidemiology
|
January 18, 2016
Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis
Yaya Barry, Christophe Bonaldi, Véronique Goulet, et al.
American Journal of Medical Genetics. Part A
|
July 2, 2015
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation
Laureline Lepais, David Cheillan, Sophie Collardeau Frachon, et al.
Molecular Genetics and Metabolism
|
March 8, 2008
Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice
David Cheillan, Céline Malleval, Jérôme Ausseil, et al.
Journal of Lipid Research
|
May 8, 2024
Intestinal absorption of sphingosine: new insights on generated ceramide species using stable isotope tracing in vitro
Catherine Calzada, David Cheillan, Nina Ritsch, et al.
Cancers
|
October 14, 2022
Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer
Patricia Dubot, Leonardo Astudillo, Nicole Therville, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2016
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Christine Vianey-Saban, Cécile Acquaviva, David Cheillan, et al.
Journal of Neurology
|
May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia
Mathilde Renaud, Claire Guissart, Martial Mallaret, et al.
Journal of Inherited Metabolic Disease
|
March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Monique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
International Journal of Neonatal Screening
|
February 22, 2023
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal Screen.</i> 2022, <i>8</i>, 20"
Simon A Jones, David Cheillan, Anupam Chakrapani, et al.
International Journal of Neonatal Screening
|
March 24, 2022
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
Simon A Jones, David Cheillan, Anupam Chakrapani, et al.
Page
of 8