Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice.

by Wilhelmina G Leen, Michèl A Willemsen, Ron A Wevers, Marcel M Verbeek
Published 2012-01-01

Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

by Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Published 2021-06-01

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

by Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
Published 2019-11-01

Oculoectodermal Syndrome – Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation

by Renée J.H. Richters, Marieke M.B. Seyger, Kim A.P. Meeuwis, Tuula Rinne, Astrid Eijkelenboom, Michèl A. Willemsen
Published 2020-04-01

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

by Gerjen H. Tinnevelt, Udo F.H. Engelke, Ron A. Wevers, Stefanie Veenhuis, Michel A. Willemsen, Karlien L.M. Coene, Purva Kulkarni, Jeroen J. Jansen
Published 2020-11-01

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycan...

by Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven
Published 2017-12-01

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek
Published 2021-06-01