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David Cheillan

Showing results (11-20 of 80) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|December 1, 2021
Prevalence and Determinants of Transient Congenital Hypothyroidism in Children With Eutopic Gland in France: A Retrospective Cohort StudyYaya Barry, Laurence Mandereau-Bruno, Christophe Bonaldi, et al.
Neuropediatrics|March 8, 2016
Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 DeficiencyArthur Sorlin, Gilbert Briand, David Cheillan, et al.
Methods in Molecular Biology (Clifton, N.J.)|January 6, 2011
Amino acid profiling for the diagnosis of inborn errors of metabolismMonique Piraud, Séverine Ruet, Sylvie Boyer, et al.
Journal of Medical Genetics|August 9, 2019
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studiesMichael Chong, Grace Yoon, Delia Susan-Resiga, et al.
Orphanet Journal of Rare Diseases|February 21, 2025
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNASandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, et al.
Fertility and Sterility|July 29, 2010
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemiaThierry Forges, Patricia Monnier, Bruno Leheup, et al.
Cell Death and Differentiation|December 15, 2018
Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cellsMarion Orsini, Sébastien Chateauvieux, Jiyun Rhim, et al.
Annals of General Psychiatry|April 11, 2017
Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary studyCaroline Demily, François Parant, David Cheillan, et al.
Molecular Genetics and Metabolism|September 5, 2012
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variationsAudrey Boutron, Anna Marabotti, Angelo Facchiano, et al.
European Journal of Medical Genetics|July 7, 2009
A new mutation in COG7 extends the spectrum of COG subunit deficienciesRenate Zeevaert, François Foulquier, David Cheillan, et al.
Pageof 8

Showing results (11-20 of 80) with videos related to

Sort By:
Pageof 8
The Journal of Clinical Endocrinology and Metabolism|December 1, 2021
Prevalence and Determinants of Transient Congenital Hypothyroidism in Children With Eutopic Gland in France: A Retrospective Cohort StudyYaya Barry, Laurence Mandereau-Bruno, Christophe Bonaldi, et al.
Neuropediatrics|March 8, 2016
Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 DeficiencyArthur Sorlin, Gilbert Briand, David Cheillan, et al.
Methods in Molecular Biology (Clifton, N.J.)|January 6, 2011
Amino acid profiling for the diagnosis of inborn errors of metabolismMonique Piraud, Séverine Ruet, Sylvie Boyer, et al.
Journal of Medical Genetics|August 9, 2019
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studiesMichael Chong, Grace Yoon, Delia Susan-Resiga, et al.
Orphanet Journal of Rare Diseases|February 21, 2025
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNASandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, et al.
Fertility and Sterility|July 29, 2010
Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemiaThierry Forges, Patricia Monnier, Bruno Leheup, et al.
Cell Death and Differentiation|December 15, 2018
Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cellsMarion Orsini, Sébastien Chateauvieux, Jiyun Rhim, et al.
Annals of General Psychiatry|April 11, 2017
Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary studyCaroline Demily, François Parant, David Cheillan, et al.
Molecular Genetics and Metabolism|September 5, 2012
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variationsAudrey Boutron, Anna Marabotti, Angelo Facchiano, et al.
European Journal of Medical Genetics|July 7, 2009
A new mutation in COG7 extends the spectrum of COG subunit deficienciesRenate Zeevaert, François Foulquier, David Cheillan, et al.
Pageof 8