Chapter 9 Continuums of Violence

Por Yadav, Punam, Horn, Denise M
Publicado em 2021

Walking the Interactome for Prioritization of Candidate Disease Genes

Por Köhler, Sebastian, Bauer, Sebastian, Horn, Denise, Robinson, Peter N.
Publicado em 2008

Secondary fibrosarcoma of the brain stem treated with cyclophosphamide and Imatinib

Por Alexandru, Daniela, Van Horn, Denise K., Bota, Daniela Annenelie
Publicado em 2009

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Por Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
Publicado em 2008

Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Por Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Horn, Denise, Haucke, Volker, Hennies, Hans Christian
Publicado em 2011

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

Por Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Publicado em 2013

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

Por Seifert, Wenke, Meinecke, Peter, Krüger, Gabriele, Rossier, Eva, Heinritz, Wolfram, Wüsthof, Achim, Horn, Denise
Publicado no BMC Med Genet (2014)

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Por Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Publicado em 2010

Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

Por Zimmer, Julia, Doelken, Sandra C., Horn, Denise, Groppe, Jay C., Shore, Eileen M., Kaplan, Frederick S., Seemann, Petra
Publicado em 2012

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Por Seifert, Wenke, Kühnisch, Jirko, Maritzen, Tanja, Lommatzsch, Stefanie, Hennies, Hans Christian, Bachmann, Sebastian, Horn, Denise, Haucke, Volker
Publicado no J Biol Chem (2015)

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Por Picker-Minh, Sylvie, Busche, Andreas, Hartmann, Britta, Spors, Birgit, Klopocki, Eva, Hübner, Christoph, Horn, Denise, Kaindl, Angela M
Publicado no Orphanet J Rare Dis (2014)

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Por Flöttmann, Ricarda, Sowinska-Seidler, Anna, Lavie, Julie, Chateil, Jean-François, Lacombe, Didier, Mundlos, Stefan, Horn, Denise, Spielmann, Malte
Publicado no Eur J Hum Genet (2016)

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

Por Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Publicado em 2007

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

Por van Rahden, Vanessa A., Fernandez-Vizarra, Erika, Alawi, Malik, Brand, Kristina, Fellmann, Florence, Horn, Denise, Zeviani, Massimo, Kutsche, Kerstin
Publicado no Am J Hum Genet (2015)

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

Por Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram
Publicado no Orphanet J Rare Dis (2015)

HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

Por Seifert, Wenke, Beninde, Julia, Hoffmann, Katrin, Lindner, Tom H, Bassir, Christian, Aksu, Fuat, Hübner, Christoph, Verbeek, Nienke E, Mundlos, Stefan, Horn, Denise
Publicado em 2009

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Por Köhler, Sebastian, Schulz, Marcel H., Krawitz, Peter, Bauer, Sebastian, Dölken, Sandra, Ott, Claus E., Mundlos, Christine, Horn, Denise, Mundlos, Stefan, Robinson, Peter N.
Publicado em 2009

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Por Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise
Publicado em 2013

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Por Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin
Publicado em 2013

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

Por Aldinger, Kimberly A., Kogan, Jillene, Kimonis, Virginia, Fernandez, Bridget, Horn, Denise, Klopocki, Eva, Chung, Brian, Toutain, Annick, Weksberg, Rosanna, Millen, Kathleen J., Barkovich, A. James, Dobyns, William B.
Publicado em 2012