Reframing selection as a learning experience: Insights from a residency selection assessment
Teheux, Lara, Coolen, Ester H A J, Tiehuis, Laurie H, Draaisma, Jos M T, Willemsen, Michèl A A P, Hermans, Renee H B, Kuijer-Siebelink, Wietske, van der Velden, Janiëlle A E M
Published in Medical teacher (01.11.2024)
Published in Medical teacher (01.11.2024)
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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding
Samkar, Anusha, Leen, Willemijn G., Willemsen, Michèl A. A. P., Verrips, Aad
Published in Annals of neurology (01.01.2020)
Published in Annals of neurology (01.01.2020)
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Classic ataxia-telangiectasia: the phenotype of long-term survivors
van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.
Published in Journal of neurology (01.03.2020)
Published in Journal of neurology (01.03.2020)
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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective
Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean‐Baptiste, Broekman, Sanne, Vrieze, Erik, Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles
Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
Schobers, Gaby, Schieving, Jolanda H, Yntema, Helger G, Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G, Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P, Vissers, Lisenka E. L. M
Published in Genome medicine (17.06.2022)
Published in Genome medicine (17.06.2022)
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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, Boer, Siebolt, Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.
Published in Journal of inherited metabolic disease (01.01.2023)
Published in Journal of inherited metabolic disease (01.01.2023)
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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
Willemsen, Marjolein H, Vissers, Lisenka E L, Willemsen, Michèl A A P, van Bon, Bregje W M, Kroes, Thessa, de Ligt, Joep, de Vries, Bert B, Schoots, Jeroen, Lugtenberg, Dorien, Hamel, Ben C J, van Bokhoven, Hans, Brunner, Han G, Veltman, Joris A, Kleefstra, Tjitske
Published in Journal of medical genetics (01.03.2012)
Published in Journal of medical genetics (01.03.2012)
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Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia
Blom, Maartje, Schoenaker, Michiel H D, Hulst, Myrthe, de Vries, Martine C, Weemaes, Corry M R, Willemsen, Michèl A A P, Henneman, Lidewij, van der Burg, Mirjam
Published in Frontiers in immunology (06.11.2019)
Published in Frontiers in immunology (06.11.2019)
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Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial
Verhaegh, Anke P. M., Groen, Brenda E., Aarts, Pauline B. M., van Ee, Raymond, Willemsen, Michèl A. A. P., Jongsma, Marijtje L. A., Nijhuis-van der Sanden, Maria W. G.
Published in Occupational therapy international (2023)
Published in Occupational therapy international (2023)
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Sjögren–Larsson syndrome in clinical practice
Fuijkschot, Joris, Theelen, Thomas, Seyger, Marieke M. B., van der Graaf, Marinette, de Groot, Imelda J. M., Wevers, Ron A., Wanders, Ronald J. A., Waterham, Hans R., Willemsen, Michèl A. A. P.
Published in Journal of inherited metabolic disease (01.11.2012)
Published in Journal of inherited metabolic disease (01.11.2012)
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Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
van Os, Nienke J H, Chessa, Luciana, Weemaes, Corry M R, van Deuren, Marcel, Fiévet, Alice, van Gaalen, Judith, Mahlaoui, Nizar, Roeleveld, Nel, Schrader, Christoph, Schindler, Detlev, Taylor, Alexander M R, Van de Warrenburg, Bart P C, Dörk, Thilo, Willemsen, Michèl A A P
Published in Journal of medical genetics (01.05.2019)
Published in Journal of medical genetics (01.05.2019)
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Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome
Staps, Pippa, Rizzo, William B., Vaz, Frédéric M., Bugiani, Marianna, Giera, Martin, Heijs, Bram, Kampen, Antoine H. C., Pras‐Raves, Mia L., Breur, Marjolein, Groen, Annemieke, Ferdinandusse, Sacha, Graaf, Marinette, Van Goethem, Gert, Lammens, Martin, Wevers, Ron A., Willemsen, Michèl A. A. P.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures
Clayton, Peter T, Mills, Philippa B, Struys, Eduard, Jakobs, Cornelis, Plecko, Barbara, Baxter, Peter, Baumgartner, Matthias, Willemsen, Michèl A A P, Omran, Heymut, Tacke, Uta, Uhlenberg, Birgit, Weschke, Bernhard
Published in Nature medicine (01.03.2006)
Published in Nature medicine (01.03.2006)
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Childhood white matter disorders: quantitative MR imaging and spectroscopy
van der Voorn, J Patrick, Pouwels, Petra J W, Hart, Augustinus A M, Serrarens, Judith, Willemsen, Michèl A A P, Kremer, Hubertus P H, Barkhof, Frederik, van der Knaap, Marjo S
Published in Radiology (01.11.2006)
Published in Radiology (01.11.2006)
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A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy
Tol, Walinka, Ashikov, Angel, Korsch, Eckhard, Abu Bakar, Nurulamin, Willemsen, Michèl A., Thiel, Christian, Lefeber, Dirk J.
Published in JIMD reports (01.11.2019)
Published in JIMD reports (01.11.2019)
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