Resultados de procura - Boschann, Felix

AutozygosityMapper: Identification of disease-mutations in consanguineous families por Steinhaus, Robin, Boschann, Felix, Vogel, Melanie, Fischer-Zirnsak, Björn, Seelow, Dominik

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Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis por Hölzer, Hans Thomas, Boschann, Felix, Hennermann, Julia B., Hahn, Gabriele, Hermann, Andreas, von der Hagen, Maja, Tüngler, Victoria

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Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome) por Boschann, Felix, Moreno, Daniel Acero, Mensah, Martin A., Sczakiel, Henrike L., Skipalova, Karolina, Holtgrewe, Manuel, Mundlos, Stefan, Fischer-Zirnsak, Björn

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Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings por Danyel, Magdalena, Cheng, Zhuo, Jung, Christine, Boschann, Felix, Pantel, Jean Tori, Hajjir, Nurulhuda, Flöttmann, Ricarda, Schulz, Solveig, Demuth, Ilja, Sheridan, Eamonn, Mundlos, Stefan, Horn, Denise, Mensah, Martin A.

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VarFish: comprehensive DNA variant analysis for diagnostics and research por Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter

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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive por Vogt, Guido, Verheyen, Sarah, Schwartzmann, Sarina, Ehmke, Nadja, Potratz, Cornelia, Schwerin-Nagel, Anette, Plecko, Barbara, Holtgrewe, Manuel, Seelow, Dominik, Blatterer, Jasmin, Speicher, Michael R, Kornak, Uwe, Horn, Denise, Mundlos, Stefan, Fischer-Zirnsak, Björn, Boschann, Felix

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Hyper-IgE and Carcinoma in CADINS Disease por Pietzsch, Leonora, Körholz, Julia, Boschann, Felix, Sergon, Mildred, Dorjbal, Batsukh, Yee, Debra, Gilly, Vanessa, Kämmerer, Eva, Paul, Diana, Kastl, Clemens, Laass, Martin W., Berner, Reinhard, Jacobsen, Eva Maria, Roesler, Joachim, Aust, Daniela, Lee-Kirsch, Min A., Snow, Andrew L., Schuetz, Catharina

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One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency por Körholz, Julia, Gabrielyan, Anastasia, Sowerby, John M., Boschann, Felix, Chen, Lan-Sun, Paul, Diana, Brandt, David, Kleymann, Janina, Kolditz, Martin, Toepfner, Nicole, Knöfler, Ralf, Jacobsen, Eva-Maria, Wolf, Christine, Conrad, Karsten, Röber, Nadja, Lee-Kirsch, Min Ae, Smith, Kenneth G. C., Mundlos, Stefan, Berner, Reinhard, Dalpke, Alexander H., Schuetz, Catharina, Rae, William

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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies por Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

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Whole genome sequencing of a sporadic primary immunodeficiency cohort por Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.

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