Хайлтын үр дүнгүүд - Pablo Villavicencio‐Lorini

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  1. 1
    Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

    Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 -н Pablo Villavicencio‐Lorini, Eva Klopocki, Marc Trimborn, Randi Koll, Stefan Mundlos, Denise Horn

    Хэвлэсэн 2012
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    Artigo
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  2. 2
    Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis

    Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis -н Pia Kuss, Pablo Villavicencio‐Lorini, Florian Witte, Joachim Klose, Andrea N. Albrecht, Petra Seemann, Jochen Hecht, Stefan Mundlos

    Хэвлэсэн 2008
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    Artigo
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  3. 3
    Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation

    Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation -н Pablo Villavicencio‐Lorini, Pia Kuss, Julia Friedrich, Julia Haupt, Muhammad Farooq, Seval Türkmen, Denis Duboule, Jochen Hecht, Stefan Mundlos

    Хэвлэсэн 2010
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    Artigo
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  4. 4
    Case Report: Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient

    Case Report: Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient -н Bruno Griesler, Susann Schulze, Thomas Kegel, Christine Dierks, Pablo Villavicencio‐Lorini, Markus Eszlinger, Haifa Kathrin Al‐Ali, Nadja Jaekel

    Хэвлэсэн 2025
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    Artigo
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  5. 5
    The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan

    The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan -н Huaize Liu, Jie Ding, Karl Köhnlein, Nadine Urban, Alessandro Ori‬‬, Pablo Villavicencio‐Lorini, Peter Walentek, Lars‐Oliver Klotz, Thomas Hollemann, Thorsten Pfirrmann

    Хэвлэсэн 2019
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    Artigo
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  6. 6
    Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

    Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits -н Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès, Ute Moog, Bettina Lorenz‐Depiereux, Sebastian Eck, Maja Hempel, Janine Wagenstaller, Alex J.T. Gawthrope, Anthony P. Monaco, Michael Bonin, Olaf Rieß, Eva Wohlleber, Thomas Illig, Connie R. Bezzina, André Franke, Stephanie Spranger, Pablo Villavicencio‐Lorini, Wenke Seifert, Jochen Rosenfeld, Eva Klopocki, Gudrun Rappold, Tim M. Strom

    Хэвлэсэн 2010
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    Artigo
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  7. 7
    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation -н Karim Kouz, Christina Lißewski, Stephanie Spranger, Diana Mitter, Angelika Rieß, Vanesa López‐González, Sabine Lüttgen, Hatip Aydın, Florian von Deimling, Christina Evers, Andreas Hahn, Maja Hempel, Ulrike Issa, Anne‐Karin Kahlert, A. Lieb, Pablo Villavicencio‐Lorini, María Juliana Ballesta‐Martínez, Sheela Nampoothiri, Angela Ovens‐Raeder, Alena Puchmajerová, Robin Satanovskij, Heide Seidel, Stephan Unkelbach, Bernhard Zabel, Kerstin Kutsche, Martin Zenker

    Хэвлэсэн 2016
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    Artigo
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  8. 8
    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta -н Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza‐Meireles, Carolina Moreno, Eugênia Ribeiro Valadares, Sérgio B. Sousa, Sofia Maia, Jorge Saraiva, Rachel Sayuri Honjo, Chong Ae Kim, Hamilton Cabral De Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Débora Romeo Bertola, Bernd Wollnik, Christian Netzer

    Хэвлэсэн 2019
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    Artigo
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  9. 9
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability -н María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    Хэвлэсэн 2024
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    Artigo
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