E-LIB Suche - Ergebnisse für: Rust, S.

1

"Why them, why me, why us?" The experiences of parents of c..:

Hassall, S. ; Smith, D. M. ; Rust, S...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

2

Early nutritional screening, appropriate first line advice ..:

Gibson, R. ; Kingston, P. ; Perry, S....
Clinical Nutrition ESPEN. 48 (2022) - p. 514 , 2022

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

3

Ten years of enzyme replacement therapy in paediatric onset..:

Broomfield, A. ; Davison, J. ; Roberts, J....
Molecular Genetics and Metabolism. 129 (2020) 2 - p. 98-105 , 2020

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

4

P.214Presymptomatic spinal muscular atrophy: reality or myt..:

Lowes, L. ; Alfano, L. ; Chen, D....
Neuromuscular Disorders. 29 (2019) - p. S129 , 2019

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

5

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES:

Nelson, L. ; Alfano, L. ; Chen, D....
Neuromuscular Disorders. 28 (2018) - p. S56 , 2018

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

6

QIL1-dependent assembly of MICOS complex–lethal mutation in..:

Gödiker, J. ; Grüneberg, M. ; DuChesne, I....
Journal of Human Genetics. 63 (2018) 6 - p. 707-716 , 2018

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

7

Lathosterolosis: A Relatively Mild Case with Cataracts and ..:

, In: JIMD Reports; JIMD Reports, Volume 44,

Anderson, R. ; Rust, S. ; Ashworth, J.... - p. 79-84 , 2018

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

8

A new case of UDP‐galactose transporter deficiency (SLC35A2..:

Dörre, K. ; Olczak, M. ; Wada, Y....
Journal of Inherited Metabolic Disease. 38 (2015) 5 - p. 931-940 , 2015

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

9

ALG1-CDG: A new case with early fatal outcome:

Rohlfing, A.-K. ; Rust, S. ; Reunert, J....
Gene. 534 (2014) 2 - p. 345-351 , 2014

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

10

Comfortably Numb: Material Ecocriticism and the Postmodern ..:

Rust, S. A.
Interdisciplinary Studies in Literature and Environment. 21 (2014) 3 - p. 550-561 , 2014

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

11

326 A novel non-ligand competing anti-EGFR antibody for can..:

Wang, X. ; Rust, S. ; Comer, F....
European Journal of Cancer. 50 (2014) - p. 106 , 2014

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

12

Uvula bifida als Leitsymptom einer neuen Stoffwechselerkran..:

Tegtmeyer, L.C. ; Rust, S. ; Marquardt, T.
Monatsschrift Kinderheilkunde. 162 (2014) 11 - p. 975-977 , 2014

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

13

Developmental outcome post allogenic bone marrow transplant..:

Breen, C. ; Wynn, R.F. ; O'Meara, A....
Molecular Genetics and Metabolism. 108 (2013) 1 - p. 82-84 , 2013

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

14

Enviro-Toons: Green Themes in Animated Cinema and Televisio:

Rust, S.
Interdisciplinary Studies in Literature and Environment. 20 (2013) 2 - p. 441-442 , 2013

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

15

Heterozygosity for lysosomal acid lipase E8SJM mutation and..:

Muntoni, Sa. ; Wiebusch, H. ; Jansen-Rust, M....
Nutrition, Metabolism and Cardiovascular Diseases. 23 (2013) 8 - p. 732-736 , 2013

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