E-LIB Suche - Ergebnisse für: Janssen, Mirian C.

1

Retrospective evaluation of the Dutch pre‐newborn screening..:

Haijes, Hanneke A. ; Molema, Femke ; Langeveld, Mirjam...
Journal of Inherited Metabolic Disease. 43 (2019) 3 - p. 424-437 , 2019

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

2

Fertility in adult women with classic galactosemia and prim..:

van Erven, Britt ; Berry, Gerard T. ; Cassiman, David...
Fertility and Sterility. 108 (2017) 1 - p. 168-174 , 2017

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

3

Clinical utility of chitotriosidase enzyme activity in neph..:

Elmonem, Mohamed A ; Makar, Samuel H ; van den Heuvel, Lambertus...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

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

4

Copper Deficiency in Patients with Cystinosis with Cysteami..:

Besouw, Martine T.P. ; Schneider, Jerry ; Janssen, Mirian C....
The Journal of Pediatrics. 163 (2013) 3 - p. 754-760 , 2013

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

5

Risk factors and prognosis of young stroke. The FUTURE stud..:

Rutten-Jacobs, Loes CA ; Maaijwee, Noortje AM ; Arntz, Renate M...
BMC Neurology. 11 (2011) 1 - p. , 2011

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

6

Bone quality in LAMA2-related muscular dystrophy and SELENO..:

Bouman, Karlijn ; Dittrich, Anne T.M. ; Groothuis, Jan T....
Neuromuscular Disorders. 34 (2024) - p. 105-113 , 2024

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

7

Impact of theta transcranial alternating current stimulatio..:

Derks, Britt ; Kumar, Varsha Shashi ; Yadnik, Sai...
Journal of Inherited Metabolic Disease. , 2024

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

8

Social cognition, emotion regulation and social competence ..:

Hermans, Merel E. ; Geurtsen, Gert J. ; Hollak, Carla E.M....
Acta Neuropsychiatrica. , 2024

Link: https://doi.org/10.1017/..

9

SELENON-Related Myopathy Across the Life Span, a Cross-Sect..:

Bouman, Karlijn ; Groothuis, Jan T. ; Doorduin, Jonne...
Journal of Neuromuscular Diseases. 10 (2023) 6 - p. 1055-1074 , 2023

Link: https://doi.org/10.3233/..

10

Increased prevalence of Parkinson's disease in alkaptonuria:

Ranganath, Lakshminarayan ; Khedr, Milad ; Milan, Anna M....
JIMD Reports. 64 (2023) 4 - p. 282-292 , 2023

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

11

Indications for Tube Feeding in Adults with Muscular Disord..:

Middelink, Marloes ; Voermans, Nicol C. ; van Engelen, Baziel G.M....
Journal of Neuromuscular Diseases. 10 (2023) 5 - p. 777-785 , 2023

Link: https://doi.org/10.3233/..

12

Bone Quality in Patients with a Congenital Myopathy: A Scop..:

Bouman, Karlijn ; Dittrich, Anne T.M. ; Groothuis, Jan T....
Journal of Neuromuscular Diseases. 10 (2023) 1 - p. 1-13 , 2023

Link: https://doi.org/10.3233/..

13

Feasible and clinical relevant outcome measures for adults ..:

Bergs, Peggy M.J. ; Maas, Daphne M. ; Janssen, Mirian C.H..
Molecular Genetics and Metabolism. 135 (2022) 1 - p. 102-108 , 2022

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

14

Cognitive functioning and mental health in children with a ..:

van de Loo, Kim F. E. ; Custers, José A. E. ; de Boer, Lonneke...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

15

Multi‐omics in classical galactosemia: Evidence for the inv..:

Hermans, Merel E. ; van Weeghel, Michel ; Vaz, Frédéric M....
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1094-1105 , 2022

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