Výsledky vyhledávání - Floris C. Hofstede

  • Zobrazuji výsledky 1 - 7 z 7
Upřesnit hledání
  1. 1
    Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study

    Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study Autor Rianne Jahja, Francjan J. van Spronsen, Leo de Sonneville, Jaap J. van der Meere, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C.G.J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

    Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study Autor Rianne Jahja, Francjan J. van Spronsen, Leo de Sonneville, Jaap J. van der Meere, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C.G.J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

    Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. Autor Rianne Jahja, Stephan C. J. Huijbregts, Leo de Sonneville, Jaap J. van der Meere, Amanda M Legemaat, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C.G.J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Francjan J. van Spronsen

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study Autor Vassili Valayannopoulos, Julien Baruteau, María Bueno Delgado, Aline Cano, María L. Couce, Mireia del Toro, Maria Alice Donati, Ángeles García‐Cazorla, David Gil, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Çöker, Rosa A. Lama‐More, Mercedes Martínez‐Pardo Casanova, Á. Molina, Samia Pichard, Francesco Papadia, Patricia Roselló, Céline Plisson, Jeannie Le Mouhaër, Anupam Chakrapani

    Vydáno 2016
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

    Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes Autor Yin‐Hsiu Chien, José E. Abdenur, Federico Baronio, Allison Bannick, Fernando J. Corrales, María L. Couce, Markus G. Donner, Can Fıçıcıoğlu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris C. Hofstede, George Hoganson, Wuh‐Liang Hwu, Philip James, Sook Kim, Stanley H. Korman, Robin Lachmann, Harvey L. Levy, Martin Lindner, Lilia Lykopoulou, Ertan Mayatepek, Ania C. Muntau, Yoshiyuki Okano, Kimiyo Raymond, M. Estela Rubio‐Gozalbo, Sabine Scholl‐Bürgi, Andreas Schulze, Rani H. Singh, Sally P. Stabler, Mary Stuy, Janet A. Thomas, Conrad Wagner, William G. Wilson, Saskia B. Wortmann, Shigenori Yamamoto, Maryland Pao, Henk J. Blom

    Vydáno 2015
    Získat plný text Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Autor Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Lara Abulhoul, Stephanie Grünewald, Irina Anselm, Hatem Azzouz, Drago Bratkovic, Arjan de Brouwer, Ben C.J. Hamel, Tjitske Kleefstra, Helger G. Yntema, Jaume Campistol, Marta Vilaseca, David Cheillan, Marc D’Hooghe, Luísa Diogo, Paula Garcia, Carla Valongo, Maria José Fonseca, Suzanna G.M. Frints, Bridget Wilcken, Sigrun von der Haar, Hanne Meijers‐Heijboer, Floris C. Hofstede, Diana Johnson, Sarina G. Kant, Laurence Lion‐François, G. Pitelet, Nicola Longo, J A Maat-Kievit, João Monteiro, Arnold Münnich, Ania C. Muntau, Marie‐Cécile Nassogne, Hitoshi Osaka, Katrin Õunap, Jean-Marc Pinard, Susana Quijano‐Roy, I Poggenburg, Nicola Poplawski, Omar Abdul‐Rahman, Antònia Ribes, Ángela Arias, Joy Yaplito‐Lee, Andreas Schulze, Charles E. Schwartz, Susanne Schwenger, G. Soares, Yves Sznajer, Vassili Valayannopoulos, Hilde Van Esch, Stephan Waltz, Mirjam M. C. Wamelink, Petra J. W. Pouwels, Abdellatif Errami, Marjo S. van der Knaap, C. Jakobs, Grazia M.S. Mancini, Gajja S. Salomons

    Vydáno 2013
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

    Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Autor Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong‐hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather M. McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martı́nez, Alfonso Caro‐Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan‐Khetarpal, Sonal Desai, Sakkubai Naidu, Julien Thévenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer Tarpinian, Jill A. Rosenfeld, Brendan Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: