Rezultati pretrage - Grzeschik, Karl-Heinz
- Prikaz rezultata 1 – 18 od 18
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The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly od Debeer, Philippe, Devriendt, Koen, De Smet, Luc, deRavel, Thomy, Gonzalez-Meneses, Antonio, Grzeschik, Karl-Heinz, Fryns, Jean-Pierre
Izdano 2007Tekst -
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Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development od Abbasi, Amir A, Paparidis, Zissis, Malik, Sajid, Bangs, Fiona, Schmidt, Ansgar, Koch, Sabine, Lopez-Rios, Javier, Grzeschik, Karl-Heinz
Izdano 2010Tekst -
7
Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization od Krauß, Sybille, So, Joyce, Hambrock, Melanie, Köhler, Andrea, Kunath, Melanie, Scharff, Constance, Wessling, Martina, Grzeschik, Karl-Heinz, Schneider, Rainer, Schweiger, Susann
Izdano 2009Tekst -
8
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences od Malik, Sajid, Girisha, KM, Wajid, Muhammad, Roy, Akhilesh K, Phadke, Shubha R, Haque, Sayedul, Ahmad, Wasim, Koch, Manuela C, Grzeschik, Karl-Heinz
Izdano 2007Tekst -
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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 od 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
Izdano 1990Tekst -
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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 od 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
Izdano 2003Tekst -
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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type od 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
Izdano 2014Tekst -
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A large duplication involving the IHH locus mimics acrocallosal syndrome od 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
Izdano 2012Tekst -
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IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response od 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
Izdano 2009Tekst -
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A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia od 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
Izdano 2010Tekst -
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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome od 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
Izdano 2020Tekst -
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Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome od 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.
Izdano 2010Tekst -
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Human Chromosome 7: DNA Sequence and Biology od 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
Izdano 2003Tekst