检索结果 - Michèl A.A.P. Willemsen

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  1. 1
    Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome

    Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome 由 Michèl A.A.P. Willemsen

    出版 2001
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  2. 2
    Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice

    Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice 由 Wilhelmina G. Leen, Michèl A.A.P. Willemsen, Ron A. Wevers, Marcel M. Verbeek

    出版 2012
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  3. 3
    Clinical practice

    Clinical practice 由 Corrie E. Erasmus, Karen van Hulst, Jan J. Rotteveel, Michèl A.A.P. Willemsen, Peter H. Jongerius

    出版 2011
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  4. 4
    Child Neurology: Hereditary spastic paraplegia in children

    Child Neurology: Hereditary spastic paraplegia in children 由 Susanne T. de Bot, Bart P.C. van de Warrenburg, H.P.H. Kremer, Michèl A.A.P. Willemsen

    出版 2010
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  5. 5
    GLUT1 deficiency syndrome into adulthood: a follow-up study

    GLUT1 deficiency syndrome into adulthood: a follow-up study 由 W. G. Leen, Mahshid Talebi‐Taher, Marcel M. Verbeek, Erik‐Jan Kamsteeg, Bart P.C. van de Warrenburg, Michèl A.A.P. Willemsen

    出版 2014
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  6. 6
    Upper limb training for young children with unilateral cerebral palsy using video coaching: An explorative retrospective clinical study

    Upper limb training for young children with unilateral cerebral palsy using video coaching: An explorative retrospective clinical study 由 Anke P. M. Verhaegh, Steven Teerenstra, Maria W. G. Nijhuis‐van der Sanden, Pauline Aarts, Michèl A.A.P. Willemsen, Brenda E. Groen

    出版 2025
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  7. 7
    Motor problems in Prader–Willi syndrome: A systematic review on body composition and neuromuscular functioning

    Motor problems in Prader–Willi syndrome: A systematic review on body composition and neuromuscular functioning 由 Linda Reus, Machiel J. Zwarts, Leo A. van Vlimmeren, Michèl A.A.P. Willemsen, Barto J. Otten, Maria W. G. Nijhuis‐van der Sanden

    出版 2010
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  8. 8
    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases 由 Lotte Krabbenborg, Lisenka E.L.M. Vissers, Jolanda Schieving, Tjitske Kleefstra, Erik-Jan Kamsteeg, Joris A. Veltman, Michèl A.A.P. Willemsen, Simone van der Burg

    出版 2016
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  9. 9
    Serum inflammatory mediators correlate with disease activity in <scp>e</scp> lectrical <scp>s</scp> tatus <scp>e</scp> pilepticus in <scp>s</scp> leep (ESES) syndrome

    Serum inflammatory mediators correlate with disease activity in <scp>e</scp> lectrical <scp>s</scp> tatus <scp>e</scp> pilepticus in <scp>s</scp> leep (ESES) syndrome 由 Bart van den Munckhof, Evelien E. de Vries, Kees P. J. Braun, Hildegard Boss, Michèl A.A.P. Willemsen, Annet van Royen‐Kerkhof, Wilco de Jager, Floor E. Jansen

    出版 2015
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  10. 10
    Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations

    Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations 由 Anna L. Gloyn, C. Noordam, Michèl A.A.P. Willemsen, Sian Ellard, Wayne Lam, Ian W Campbell, Paula Midgley, Chyio Shiota, Carol Buettger, Mark A. Magnuson, Franz M. Matschinsky, Andrew T. Hattersley

    出版 2003
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  11. 11
    Sjögren–Larsson syndrome in clinical practice

    Sjögren–Larsson syndrome in clinical practice 由 Joris Fuijkschot, Thomas Theelen, Marieke M.B. Seyger, Marinette van der Graaf, Imelda J. M. de Groot, Ron A. Wevers, Ronald J. A. Wanders, Hans R. Waterham, Michèl A.A.P. Willemsen

    出版 2012
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  12. 12
    Ataxia-telangiectasia: recommendations for multidisciplinary treatment

    Ataxia-telangiectasia: recommendations for multidisciplinary treatment 由 Nienke J.H. van Os, Charlotte A. Haaxma, Michiel van der Flier, Peter Merkus, Marcel van Deuren, Imelda J. M. de Groot, Jan Loeffen, Bart P.C. van de Warrenburg, Michèl A.A.P. Willemsen

    出版 2017
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  13. 13
    Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

    Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations 由 Susanne T. de Bot, R. T. M. van den Elzen, Arjen R. Mensenkamp, Helenius J. Schelhaas, Michèl A.A.P. Willemsen, Nine V.A.M. Knoers, H.P.H. Kremer, Bart P.C. van de Warrenburg, Hans Scheffer

    出版 2010
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  14. 14
    Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

    Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings 由 Nienke J.H. van Os, Koen van Aerde, Judith van Gaalen, Peter Merkus, Laura Silveira‐Moriyama, Tajul A Tajudin, Bart P.C. van de Warrenburg, Corry M.R. Weemaes, Marieke Dekker, Michèl A.A.P. Willemsen

    出版 2020
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  15. 15
    eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

    eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs 由 Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy Van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

    出版 2003
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  16. 16
    Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

    Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours 由 Anne Reiman, Venkataramanan Srinivasan, Giancarlo Barone, J. I. Last, Laura L. Wootton, E. Graham Davies, M.M.M. Verhagen, Michèl A.A.P. Willemsen, Corry M.R. Weemaes, Philip J. Byrd, L Izatt, D F Easton, D. J. Thompson, Adam Taylor

    出版 2011
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  17. 17
    Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor

    Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor 由 Heidi V.N. Küsters‐Vandevelde, Annelieke E.C.A.B. Willemsen, Patricia J.T.A. Groenen, Benno Küsters, Martin Lammens, Pieter Wesseling, Melika Djafarihamedani, Jos Rijntjes, Hans Delye, Michèl A.A.P. Willemsen, Carla M. van Herpen, Willeke A.M. Blokx

    出版 2014
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  18. 18
    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome 由 Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A.A.P. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner

    出版 2012
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  19. 19
    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

    Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases 由 Saskia Koene, Richard J. Rodenburg, Marjo S. van der Knaap, Michèl A.A.P. Willemsen, Wolfgang Sperl, Vincent Laugel, Elsebet Østergaard, Mark A. Tarnopolsky, Miguel A. Martı́n, Victoria Nesbitt, Janice M. Fletcher, Simon Edvardson, Vincent Procaccio, Abdelhamid Slama, Lambert P. W. J. den van Heuvel, J.A.M. Smeitink

    出版 2012
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  20. 20
    A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

    A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology 由 Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke P.C. Grutters, Joris A. Veltman, Michèl A.A.P. Willemsen

    出版 2017
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