Hasil Pencarian - Michèl A. A. P. Willemsen

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  1. 1
    Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia

    Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia oleh Maartje Blom, Michiel H. D. Schoenaker, Myrthe Hulst, Martine C. de Vries, Corry M. R. Weemaes, Michèl A. A. P. Willemsen, Michèl A. A. P. Willemsen, Lidewij Henneman, Mirjam van der Burg

    Diterbitkan 2019-11-01
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  2. 2
    Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures

    Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures oleh Jasper V. Been, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs

    Diterbitkan 2008-06-01
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  3. 3
    An attenuated, adult case of AADC deficiency demonstrated by protein characterization

    An attenuated, adult case of AADC deficiency demonstrated by protein characterization oleh Giovanni Bisello, Christiaan G.J. Saris, Rossella Franchini, Marcel M. Verbeek, Michel A.A.P. Willemsen, Massimiliano Perduca, Mariarita Bertoldi

    Diterbitkan 2024-06-01
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  4. 4
    Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum

    Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum oleh Pippa Staps, Judith vanGaalen, Peter. vanDomburg, Peter M. Steijlen, Sacha Ferdinandusse, Tom denHeijer, Marieke M. B. Seyger, Thomas Theelen, Michèl A. A. P. Willemsen

    Diterbitkan 2020-05-01
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  5. 5
    Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial

    Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial oleh Anke P. M. Verhaegh, Brenda E. Groen, Pauline B. M. Aarts, Raymond van Ee, Michèl A. A. P. Willemsen, Marijtje L. A. Jongsma, Maria W. G. Nijhuis-van der Sanden

    Diterbitkan 2023-01-01
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  6. 6
    Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

    Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants oleh Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz, Karlien L. M. Coene, Nicole deLeeuw, Han G. Brunner, Jón J. Jónsson, Michèl A. A. P. Willemsen, Ron A. Wevers, Marcel M. Verbeek

    Diterbitkan 2021-03-01
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  7. 7
    The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

    The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder oleh Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens

    Diterbitkan 2023-07-01
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  8. 8
    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications oleh Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers

    Diterbitkan 2022-06-01
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  9. 9
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy oleh Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

    Diterbitkan 2020-01-01
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