E-LIB Suche - Ergebnisse für: Bonafe, Luisa

1

Identification of potential non-invasive biomarkers in dias..:

Paganini, Chiara ; Carroll, Ricki S. ; Gramegna Tota, Chiara...
Bone. 175 (2023) - p. 116838 , 2023

2

Chondrodysplasia and growth failure in children after early..:

Botto, Lorenzo D. ; Meeths, Marie ; Campos‐Xavier, Belinda...
American Journal of Medical Genetics Part A. 185 (2021) 2 - p. 517-527 , 2021

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

3

Non-coding deletions identify Maenli lncRNA as a limb-speci..:

Allou, Lila ; Balzano, Sara ; Magg, Andreas...
Nature. , 2021

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

4

Osteogenesis imperfecta: towards an individualised interdis..:

Aubry-Rozier, Bérengère ; Richard, Céline ; Unger, Sheila...
Swiss Medical Weekly. 150 (2020) 2728 - p. w20285 , 2020

Link: https://doi.org/10.4414/..

5

Hepatosplenomegaly, pneumopathy, bone changes and fronto-te..:

Voinea, Camelia ; Gonzalez Rodriguez, Elena ; Beigelman-Aubry, Catherine...
Journal of Bone and Mineral Metabolism. 37 (2018) 2 - p. 378-383 , 2018

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

6

Are heterozygous carriers for hereditary fructose intoleran..:

Debray, François-Guillaume ; Damjanovic, Katarina ; Rosset, Robin...
The American Journal of Clinical Nutrition. 108 (2018) 2 - p. 292-299 , 2018

Link: https://doi.org/10.1093/..

7

Adult classical homocystinuria requiring parenteral nutriti..:

Tran, Christel ; Bonafé, Luisa ; Nuoffer, Jean-Marc..
Clinical Nutrition. 37 (2018) 4 - p. 1114-1120 , 2018

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

8

Glypican-6 promotes the growth of developing long bones by ..:

Capurro, Mariana ; Izumikawa, Tomomi ; Suarez, Philippe...
Journal of Cell Biology. 216 (2017) 9 - p. 2911-2926 , 2017

Link: https://doi.org/10.1083/..

9

Current Care and Investigational Therapies in Achondroplasi:

Unger, Sheila ; Bonafé, Luisa ; Gouze, Elvire
Current Osteoporosis Reports. 15 (2017) 2 - p. 53-60 , 2017

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

10

Erratum: Corrigendum: NANS-mediated synthesis of sialic aci..:

van Karnebeek, Clara D M ; Bonafé, Luisa ; Wen, Xiao-Yan...
Nature Genetics. 49 (2017) 6 - p. 969-969 , 2017

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

11

NANS-mediated synthesis of sialic acid is required for brai..:

van Karnebeek, Clara D M ; Bonafé, Luisa ; Wen, Xiao-Yan...
Nature Genetics. 48 (2016) 7 - p. 777-784 , 2016

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

12

Corner fracture type spondylometaphyseal dysplasia: Overlap..:

Machol, Keren ; Jain, Mahim ; Almannai, Mohammed...
American Journal of Medical Genetics Part A. 173 (2016) 3 - p. 733-739 , 2016

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

13

Bisphosphonates in multicentric osteolysis, nodulosis and a..:

Pichler, Karin ; Karall, Daniela ; Kotzot, Dieter...
Scientific Reports. 6 (2016) 1 - p. , 2016

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

14

Brief Report: Peripheral Osteolysis in Adults Linked to ASA..:

Bonafé, Luisa ; Kariminejad, Ariana ; Li, Jia...
Arthritis & Rheumatology. 68 (2016) 9 - p. 2323-2327 , 2016

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

15

When should clinicians search for GLUT1 deficiency syndrome..:

Lebon, Sébastien ; Suarez, Philippe ; Alija, Semsa...
European Journal of Paediatric Neurology. 19 (2015) 2 - p. 170-175 , 2015

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