E-LIB Suche - Ergebnisse für: Rossignol, Francis

1

Metabolic diseases:

, In: Translational Glycobiology in Human Health and Disease,

Rossignol, Francis ; Ferreira, Carlos R. - p. 255-283 , 2024

2

ATP1A1-linked diseases require a malfunctioning protein pro..:

Spontarelli, Kerri ; Young, Victoria C. ; Sweazey, Ryan...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1871 (2024) 1 - p. 119572 , 2024

Link: https://doi.org/10.1016/..

3

List of contributors:

, In: Translational Glycobiology in Human Health and Disease,

Agatemor, Christian ; Alisson-Silva, Frederico ; Allman, Sarah A.... - p. xi-xiv , 2024

Link: https://doi.org/10.1016/..

4

O26: Analysis of patient-reported outcomes and a functional..:

Spears, Kathryn ; Rossignol, Francis ; Perry, Monique...
Genetics in Medicine Open. 2 (2024) - p. 100874 , 2024

Link: https://doi.org/10.1016/..

5

AORTIC VALVULAR DISEASE IN ADULTS WITH ALKAPTONURIA:

Jerves, Teodoro ; Rossignol, Francis ; Chen, Marcus..
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107431 , 2023

Link: https://doi.org/10.1016/..

6

ACCELERATION OF ALKAPTONURIC SPONDYLOARTHROPATHY IN A PATIE..:

Jang, Jessica ; Introne, Wendy ; Rossignol, Francis.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107430 , 2023

Link: https://doi.org/10.1016/..

7

eP017: GNE gene variants associated with thrombocytopenia w..:

Jang, Jessica ; Huizing, Marjan ; Bowling, Andrea...
Genetics in Medicine. 24 (2022) 3 - p. S12 , 2022

Link: https://doi.org/10.1016/..

8

Disorders of Intracellular Triglyceride and Phospholipid Me..:

, In: Inborn Metabolic Diseases,

Lamari, Foudil ; Rossignol, Francis ; Mitchell, Grant A. - p. 655-676 , 2022

Link: https://doi.org/10.1007/..

9

GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITH..:

Jang, Jessica M. ; Huizing, Marjan ; Bowling, Andrea...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 280 , 2022

Link: https://doi.org/10.1016/..

10

Quantitative analysis of the natural history of prolidase d..:

Rossignol, Francis ; Duarte Moreno, Marvid S. ; Benoist, Jean-François...
Genetics in Medicine. 23 (2021) 9 - p. 1604-1615 , 2021

Link: https://doi.org/10.1038/..

11

Inherited disorders of complex lipid metabolism: A clinical..:

Xiao, Changrui ; Rossignol, Francis ; Vaz, Frédéric M..
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 809-825 , 2021

Link: https://doi.org/10.1002/..

12

Urea cycle disorders:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Rossignol, Francis ; Ah Mew, Nicholas ; Meltzer, Meira R.. - p. 827-848 , 2020

Link: https://doi.org/10.1016/..

13

List of contributors:

, In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease,

Ah Mew, Nicholas ; Akamatsu, Wado ; Akman, Hasan Orhan... - p. xvii-xx , 2020

Link: https://doi.org/10.1016/..

14

Mildly elevated succinylacetone and normal liver function i..:

Yang, Hao ; Rossignol, Francis ; Cyr, Denis...
Molecular Genetics and Metabolism Reports. 14 (2018) - p. 55-58 , 2018

Link: https://doi.org/10.1016/..

15

The Patient Enablement Instrument-French version in a famil..:

Hudon, Catherine ; Fortin, Martin ; Rossignol, Francis..
BMC Family Practice. 12 (2011) 1 - p. , 2011

Link: https://doi.org/10.1186/..