Search Results - Laima Ambrozaitytė

  • Showing 1 - 3 results of 3
Refine Results
  1. 1
    B1MG D3.5 - Phenotypic and clinical metadata framework - 2v0

    B1MG D3.5 - Phenotypic and clinical metadata framework - 2v0 by Jeroen Beliën, Ivo Gut, Harmke Groot, Maarten Ligtvoet, Pim Volkert, Wei Gu, Jan O. Korbel, Michela Tebaldi, Milena Urbini, Giovanni Martinelli, Michela Riba, Catia Pinto, Flávio Soares, Inês Lourenço, Ulrika Hermansson, Alfonso Valencia, Laima Ambrozaityte, Sonata Jarmalaite, Kristiina Aittomaki, Hannele Laivuori, Rutt Lindström, Peter-Bram't Hoen, Evita M. Lindholm, Regina Becker, Pablo Serrano Balazote, Carlos Parra

    Published 2023
    Get full text Get full text
    Relatório de Pesquisa
    Save to List
    Saved in:
  2. 2
    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis by Deborah Mackay, Gabriella Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, I. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, África Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, I. Karen Temple, Katrin Õunap, Andrea Riccio, Guiomar Pérez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    Published 2024
    Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis by Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau‐Them, Eglė Preikšaitienė, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaitytė, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim Jiin Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michael R. Wiederkehr, Caroline F. Wright, Ioannis Xénarios, Gijs van Haaften, Charles Shaw‐Smith, Erica Schindewolf, Marguerite Neerman‐Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: