未登录 分享 收藏
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4 Neitzel, Heidemarie; Varon, Raymonda; Chughtai, Sana; Dartsch, Josephine; Dutrannoy-Toensing, Veronique; Nuernberg, Peter; Nuernberg, Gudrun; Schweiger, Michal; Digweed, Martin; Hildebrand, Gabriele; Hackmann, Karl; Holtgrewe, Manuel; Sarioglu, Nanette; Schulze, Bernt; Horn, Denise; Sperling, Karl 分享 收藏
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome Habib, Raneem; Kim, Ryong; Neitzel, Heidemarie; Demuth, Ilja; Chrzanowska, Krystyna; Seemanova, Eva; Faber, Renaldo; Digweed, Martin; Voss, Reinhard; Jaeger, Kathrin; Sperling, Karl; Walter, Michael 分享 收藏
Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only Chao, M. M.; Kuehl, J. S.; Strauss, G.; Hanenberg, H.; Schindler, D.; Neitzel, H.; Niemeyer, C.; Baumann, I.; von Bernuth, H.; Rascon, J.; Nagy, M.; Zimmermann, M.; Kratz, C. P.; Ebell, W. 分享 收藏
PUL21a-Cyclin A2 Interaction is Required to Protect Human Cytomegalovirus-Infected Cells from the Deleterious Consequences of Mitotic Entry Eifler, Martin; Uecker, Ralf; Weisbach, Henry; Bogdanow, Boris; Richter, Ellen; Koenig, Lydia; Vetter, Barbara; Lenac-Rovis, Tihana; Jonjic, Stipan; Neitzel, Heidemarie; Hagemeier, Christian; Wiebusch, Lueder 分享 收藏
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly Alberto Marchal, Juan; Ghani, Mahdi; Schindler, Detlev; Gavvovidis, Ioannis; Winkler, Tina; Esquitino, Veronique; Sternberg, Nadine; Busche, Andreas; Krawitz, Peter; Hecht, Joachim; Robinson, Peter; Mundlos, Stephan; Graul-Neumann, Luitgard; Sperling, Karl; Trimborn, Marc; Neitzel, Heidemarie 分享 收藏
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1 Ott, Claus-Eric; Fischer, Bjoern; Schroeter, Phillipe; Richter, Reyk; Gupta, Neerja; Verma, Nishant; Kabra, Madhulika; Mundlos, Stefan; Rajab, Anna; Neitzel, Heidemarie; Kornak, Uwe 分享 收藏
分享 收藏
分享 收藏
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly Darvish, H.; Esmaeeli-Nieh, S.; Monajemi, G. B.; Mohseni, M.; Ghasemi-Firouzabadi, S.; Abedini, S. S.; Bahman, I.; Jamali, P.; Azimi, S.; Mojahedi, F.; Dehghan, A.; Shafeghati, Y.; Jankhah, A.; Falah, M.; Banavandi, M. J. Soltani; Ghani-Kakhi, M.; Garshasbi, M.; Rakhshani, F.; Naghavi, A.; Tzschach, A.; Neitzel, H.; Ropers, H. H.; Kuss, A. W.; Behjati, F.; Kahrizi, K.; Najmabadi, H. 分享 收藏
Clinical Variability and Novel Mutations in the NHEJ1 Gene in Patients With a Nijmegen Breakage Syndrome-like Phenotype 奈梅亨断裂综合征样表型患者NHEJ1基因的临床变异性和新突变 Dutrannoy, Veronique; Demuth, Ilja; Baumann, Ulrich; Schindler, Detlev; Konrat, Kateryna; Neitzel, Heidemarie; Gillessen-Kaesbach, Gabriele; Radszewski, Janina; Rothe, Susanne; Schellenberger, Mario T.; Nuernberg, Gudrun; Nuernberg, Peter; Teik, Keng Wee; Nallusamy, Revathy; Reis, Andre; Sperling, Karl; Digweed, Martin; Varon, Raymonda 分享 收藏
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing 通过下一代配对末端测序对平衡染色体重排进行断点分析 Chen, Wei; Ullmann, Reinhard; Langnick, Claudia; Menzel, Corinna; Wotschofsky, Zofia; Hu, Hao; Doering, Andreas; Hu, Yuhui; Kang, Hui; Tzschach, Andreas; Hoeltzenbein, Maria; Neitzel, Heidemarie; Markus, Susanne; Wiedersberg, Eberhard; Kistner, Gerd; van Ravenswaaij-Arts, Conny M. A.; Kleefstra, Tjitske; Kalscheuer, Vera M.; Ropers, Hans-Hilger 分享 收藏
Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human Tierling, Sascha; Souren, Nicole Y.; Gries, Jasmin; LoPorto, Christina; Groth, Marco; Lutsik, Pavlo; Neitzel, Heidemarie; Utz-Billing, Isabelle; Gillessen-Kaesbach, Gabriele; Kentenich, Heribert; Griesinger, Georg; Sperling, Karl; Schwinger, Eberhard; Walter, Joern 分享 收藏
High-throughput sequencing of microdissected chromosomal regions Weise, Anja; Timmermann, Bernd; Grabherr, Manfred; Werber, Martin; Heyn, Patricia; Kosyakova, Nadezda; Liehr, Thomas; Neitzel, Heidemarie; Konrat, Kateryna; Bommer, Christiane; Dietrich, Carola; Rajab, Anna; Reinhardt, Richard; Mundlos, Stefan; Lindner, Tom H.; Hoffmann, Katrin 分享 收藏
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria; Graul-Neumann, Luitgard M.; Neitzel, Heidemarie; Page, Stephanie; Ahmed, Alischo; Mueller, Ines; Erdogan, Fikret; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Ullmann, Reinhard 分享 收藏
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 Tibelius, Alexandra; Marhold, Joachim; Zentgraf, Hanswalter; Heilig, Christoph E.; Neitzel, Heidemarie; Ducommun, Bernard; Rauch, Anita; Ho, Anthony D.; Bartek, Jiri; Kraemer, Alwin 分享 收藏
分享 收藏
分享 收藏
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer Reid, Sarah; Schindler, Detlev; Hanenberg, Helmut; Barker, Karen; Hanks, Sandra; Kalb, Reinhard; Neveling, Kornelia; Kelly, Patrick; Seal, Sheila; Freund, Marcel; Wurm, Melanie; Batish, Sat Dev; Lach, Francis P.; Yetgin, Sevgi; Neitzel, Heidemarie; Ariffin, Hany; Tischkowitz, Marc; Mathew, Christopher G.; D Auerbach, Arleen; Rahman, Nazneen 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
