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

av Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Publicerad 2013

RMND5 from Xenopus laevis Is an E3 Ubiquitin-Ligase and Functions in Early Embryonic Forebrain Development

av Pfirrmann, Thorsten, Villavicencio-Lorini, Pablo, Subudhi, Abinash K., Menssen, Ruth, Wolf, Dieter H., Hollemann, Thomas
I publikationen PLoS One (2015)

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

av Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Publicerad 2013

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis

av Kuss, Pia, Villavicencio-Lorini, Pablo, Witte, Florian, Klose, Joachim, Albrecht, Andrea N., Seemann, Petra, Hecht, Jochen, Mundlos, Stefan
Publicerad 2008

Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation

av Villavicencio-Lorini, Pablo, Kuss, Pia, Friedrich, Julia, Haupt, Julia, Farooq, Muhammed, Türkmen, Seval, Duboule, Denis, Hecht, Jochen, Mundlos, Stefan
Publicerad 2010

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

av Kraya, Torsten, Quandt, Dagmar, Pfirrmann, Thorsten, Kindermann, Andrea, Lampe, Leonie, Schroeter, Matthias L., Kohlhase, Jürgen, Stoevesandt, Dietrich, Hoffmann, Katrin, Villavicencio‐Lorini, Pablo
I publikationen Mol Genet Genomic Med (2019)

Against all odds: blended phenotypes of three single-gene defects

av Li, Yong, Salfelder, Anika, Schwab, Karl Otfried, Grünert, Sarah Catharina, Velten, Tanja, Lütjohann, Dieter, Villavicencio-Lorini, Pablo, Matysiak-Scholze, Uta, Zabel, Bernhard, Köttgen, Anna, Lausch, Ekkehart
I publikationen Eur J Hum Genet (2016)

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits

av Horn, Denise, Kapeller, Johannes, Rivera-Brugués, Núria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P, Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R, Franke, Andre, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva, Rappold, Gudrun A, Strom, Tim M
Publicerad 2010