Risultati della ricerca - Grzeschik, Karl-Heinz

An insight into the phylogenetic history of HOX linked gene families in vertebrates di Abbasi, Amir Ali, Grzeschik, Karl-Heinz

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Evolution and Functional Diversification of the GLI Family of Transcription Factors in Vertebrates di Abbasi, Amir Ali, Goode, Debbie K., Amir, Saneela, Grzeschik, Karl-Heinz

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Isolation and characterization of a hypervariable region [D4S163] on chromosome 4 di Neuweiler, John, Ruvolo, Vivian, Baum, Howard, Grzeschik, Karl-Heinz, Balazs, Ivan

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Human GLI3 Intragenic Conserved Non-Coding Sequences Are Tissue-Specific Enhancers di Abbasi, Amir Ali, Paparidis, Zissis, Malik, Sajid, Goode, Debbie K., Callaway, Heather, Elgar, Greg, Grzeschik, Karl-Heinz

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The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly di Debeer, Philippe, Devriendt, Koen, De Smet, Luc, deRavel, Thomy, Gonzalez-Meneses, Antonio, Grzeschik, Karl-Heinz, Fryns, Jean-Pierre

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Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development di Abbasi, Amir A, Paparidis, Zissis, Malik, Sajid, Bangs, Fiona, Schmidt, Ansgar, Koch, Sabine, Lopez-Rios, Javier, Grzeschik, Karl-Heinz

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Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization di Krauß, Sybille, So, Joyce, Hambrock, Melanie, Köhler, Andrea, Kunath, Melanie, Scharff, Constance, Wessling, Martina, Grzeschik, Karl-Heinz, Schneider, Rainer, Schweiger, Susann

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Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences di Malik, Sajid, Girisha, KM, Wajid, Muhammad, Roy, Akhilesh K, Phadke, Shubha R, Haque, Sayedul, Ahmad, Wasim, Koch, Manuela C, Grzeschik, Karl-Heinz

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Acromelia‐oligodontia syndrome di Talasila, Jyothirmai, Pachigolla, Ramaswamy, Yarlagadda, Kiranmai V. S. N., Vuppala, Ramu, Grzeschik, Karl‐Heinz, Kiran K.V.S, Sai, Rose, Catherine M., Gottesman, Gary S., Urban, Zsolt

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A long-range restriction map of the human chromosome 19q13 region: Close physical linkage between CKMM and the ERCC1 and ERCC2 genes di Smeets, Hubert, Bachinski, Linda, Coerwinkel, Marga, Schepens, Jan, Hoeijmakers, Jan, van Duin, Marcel, Grzeschik, Karl-Heinz, Weber, Christine A., de Jong, Pieter, Siciliano, Michael J., Wieringa, Bé

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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 di Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, Majewski, Frank, Tinschert, Sigrid, Grzeschik, Karl-Heinz, Müller, Dietmar, Knaus, Petra, Nürnberg, Peter, Mundlos, Stefan

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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type di Malik, Sajid, Percin, Ferda E., Bornholdt, Dorothea, Albrecht, Beate, Percesepe, Antonio, Koch, Manuela C., Landi, Antonio, Fritz, Barbara, Khan, Rizwan, Mumtaz, Sara, Akarsu, Nurten A., Grzeschik, Karl-Heinz

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A large duplication involving the IHH locus mimics acrocallosal syndrome di Yuksel-Apak, Memnune, Bögershausen, Nina, Pawlik, Barbara, Li, Yun, Apak, Selcuk, Uyguner, Oya, Milz, Esther, Nürnberg, Gudrun, Karaman, Birsen, Gülgören, Ayan, Grzeschik, Karl-Heinz, Nürnberg, Peter, Kayserili, Hülya, Wollnik, Bernd

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IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response di Oeffner, Frank, Fischer, Gayle, Happle, Rudolf, König, Arne, Betz, Regina C., Bornholdt, Dorothea, Neidel, Ulrike, del Carmen Boente, María, Redler, Silke, Romero-Gomez, Javier, Salhi, Aïcha, Vera-Casaño, Ángel, Weirich, Christian, Grzeschik, Karl-Heinz

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A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia di Khandanpour, Cyrus, Thiede, Christian, Valk, Peter J. M., Sharif-Askari, Ehssan, Nückel, Holger, Lohmann, Dietmar, Horsthemke, Bernhard, Siffert, Winfried, Neubauer, Andreas, Grzeschik, Karl-Heinz, Bloomfield, Clara D., Marcucci, Guido, Maharry, Kati, Slovak, Marilyn L., van der Reijden, Bert A., Jansen, Joop H., Schackert, Hans K., Afshar, Khashayar, Schnittger, Susanne, Peeters, Justine K., Kroschinsky, Frank, Ehninger, Gerhard, Lowenberg, Bob, Dührsen, Ulrich, Möröy, Tarik

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome di Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao

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Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome di McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.

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Human Chromosome 7: DNA Sequence and Biology di Scherer, Stephen W., Cheung, Joseph, MacDonald, Jeffrey R., Osborne, Lucy R., Nakabayashi, Kazuhiko, Herbrick, Jo-Anne, Carson, Andrew R., Parker-Katiraee, Layla, Skaug, Jennifer, Khaja, Razi, Zhang, Junjun, Hudek, Alexander K., Li, Martin, Haddad, May, Duggan, Gavin E., Fernandez, Bridget A., Kanematsu, Emiko, Gentles, Simone, Christopoulos, Constantine C., Choufani, Sanaa, Kwasnicka, Dorota, Zheng, Xiangqun H., Lai, Zhongwu, Nusskern, Deborah, Zhang, Qing, Gu, Zhiping, Lu, Fu, Zeesman, Susan, Nowaczyk, Malgorzata J., Teshima, Ikuko, Chitayat, David, Shuman, Cheryl, Weksberg, Rosanna, Zackai, Elaine H., Grebe, Theresa A., Cox, Sarah R., Kirkpatrick, Susan J., Rahman, Nazneen, Friedman, Jan M., Heng, Henry H. Q., Pelicci, Pier Giuseppe, Lo-Coco, Francesco, Belloni, Elena, Shaffer, Lisa G., Pober, Barbara, Morton, Cynthia C., Gusella, James F., Bruns, Gail A. P., Korf, Bruce R., Quade, Bradley J., Ligon, Azra H., Ferguson, Heather, Higgins, Anne W., Leach, Natalia T., Herrick, Steven R., Lemyre, Emmanuelle, Farra, Chantal G., Kim, Hyung-Goo, Summers, Anne M., Gripp, Karen W., Roberts, Wendy, Szatmari, Peter, Winsor, Elizabeth J. T., Grzeschik, Karl-Heinz, Teebi, Ahmed, Minassian, Berge A., Kere, Juha, Armengol, Lluis, Pujana, Miguel Angel, Estivill, Xavier, Wilson, Michael D., Koop, Ben F., Tosi, Sabrina, Moore, Gudrun E., Boright, Andrew P., Zlotorynski, Eitan, Kerem, Batsheva, Kroisel, Peter M., Petek, Erwin, Oscier, David G., Mould, Sarah J., Döhner, Hartmut, Döhner, Konstanze, Rommens, Johanna M., Vincent, John B., Venter, J. Craig, Li, Peter W., Mural, Richard J., Adams, Mark D., Tsui, Lap-Chee

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