Suchergebnisse - Mundlos, Stefan

Genetic Disorders of the Skeleton: A Developmental Approach von Kornak, Uwe, Mundlos, Stefan

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3D or Not 3D: Shaping the Genome during Development von Glaser, Juliane, Mundlos, Stefan

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Genes and quadrupedal locomotion in humans von Humphrey, Nicholas, Mundlos, Stefan, Türkmen, Seval

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TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs von Hertzberg, Jakob, Mundlos, Stefan, Vingron, Martin, Gallone, Giuseppe

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Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region von Witte, Florian, Chan, Danny, Economides, Aris N., Mundlos, Stefan, Stricker, Sigmar

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A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data von Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M

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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease von Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan

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

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A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia von Türkmen, Seval, Spielmann, Malte, Güneş, Nilay, Knaus, Alexej, Flöttmann, Ricarda, Mundlos, Stefan, Tüysüz, Beyhan

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High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice von Bortel, Emely L., Duda, Georg N., Mundlos, Stefan, Willie, Bettina M., Fratzl, Peter, Zaslansky, Paul

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L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes von Penzkofer, Tobias, Jäger, Marten, Figlerowicz, Marek, Badge, Richard, Mundlos, Stefan, Robinson, Peter N., Zemojtel, Tomasz

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Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin von Kolanczyk, Mateusz, Kühnisch, Jirko, Kossler, Nadine, Osswald, Monika, Stumpp, Sabine, Thurisch, Boris, Kornak, Uwe, Mundlos, Stefan

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Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family von Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan

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Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–... von Uhrig, Sabine , Schlembach, Dietmar , Waldispuehl-Geigl, Julie , Schaffer, Werner , Geigl, Jochen , Klopocki, Eva , Mundlos, Stefan , Speicher, Michael R. 

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

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Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees von Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.

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Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia von Flöttmann, Ricarda, Sowinska-Seidler, Anna, Lavie, Julie, Chateil, Jean-François, Lacombe, Didier, Mundlos, Stefan, Horn, Denise, Spielmann, Malte

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A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH von Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard

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

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Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome von Murakami, Yoshiko, Kanzawa, Noriyuki, Saito, Kazunobu, Krawitz, Peter M., Mundlos, Stefan, Robinson, Peter N., Karadimitris, Anastasios, Maeda, Yusuke, Kinoshita, Taroh

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