未登录 分享 收藏
分享 收藏
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome Pozojevic, Jelena; Sivaprasad, Radhika; Lass, Joshua; Haarich, Franziska; Trinh, Joanne; Kakar, Naseebullah; Schulz, Kristin; Haendler, Kristian; Verrijn Stuart, Annemarie A.; Giltay, Jacques C.; van Gassen, Koen L.; Caliebe, Almuth; Holterhus, Paul-Martin; Spielmann, Malte; Hornig, Nadine C. 分享 收藏
STIGMA: Single-cell tissue-specific gene prioritization using machine learning (vol 111, pg 338, 2024) 柱头: 使用机器学习的单细胞组织特异性基因优先化 (111卷，338页，2024) Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte 分享 收藏
STIGMA: Single-cell tissue-specific gene prioritization using machine learning Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte 分享 收藏
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset Trinh, Joanne; Luth, Theresa; Schaake, Susen; Laabs, Bjorn-Hergen; Schlueter, Kathleen; Lass, Joshua; Pozojevic, Jelena; Tse, Ronnie; Koenig, Inke; Jamora, Roland Dominic; Rosales, Raymond L.; Brueggemann, Norbert; Saranza, Gerard; Diesta, Cid Czarina E.; Kaiser, Frank J.; Depienne, Christel; Pearson, Christopher E.; Westenberger, Ana; Klein, Christine 分享 收藏
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism 确定X连锁肌张力障碍-帕金森综合征中与年龄相关的外显率的遗传修饰符 Laabs, Bjorn-Hergen; Klein, Christine; Pozojevic, Jelena; Domingo, Aloysius; Bruggemann, Norbert; Grutz, Karen; Rosales, Raymond L.; Jamora, Roland Dominic; Saranza, Gerard; Diesta, Cid Czarina E.; Wittig, Michael; Schaake, Susen; Dulovic-Mahlow, Marija; Quismundo, Jana; Otto, Pia; Acuna, Patrick; Go, Criscely; Sharma, Nutan; Multhaupt-Buell, Trisha; Muller, Ulrich; Hanssen, Henrike; Kilpert, Fabian; Franke, Andre; Rolfs, Arndt; Bauer, Peter; Dobricic, Valerija; Lohmann, Katja; Ozelius, Laurie J.; Kaiser, Frank J.; Konig, Inke R.; Westenberger, Ana 分享 收藏
分享 收藏
分享 收藏
DNAMethylation as a Potential Molecular Mechanism in X-Linked Dystonia-Parkinsonism Krause, Christin; Schaake, Susen; Grutz, Karen; Sievert, Helen; Reyes, Charles Jourdan; Konig, Inke R.; Laabs, Bjoern-Hergen; Jamora, Roland Dominic; Rosales, Raymond L.; Diesta, Cid Czarina E.; Pozojevic, Jelena; Gemoll, Timo; Westenberger, Ana; Kaiser, Frank J.; Klein, Christine; Kirchner, Henriette 分享 收藏
分享 收藏
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism Westenberger, Ana; Reyes, Charles Jourdan; Saranza, Gerard; Dobricic, Valerija; Hanssen, Henrike; Domingo, Aloysius; Laabs, Bjoern-Hergen; Schaake, Susen; Pozojevic, Jelena; Rakovic, Aleksandar; Gruetz, Karen; Begemann, Kimberly; Walter, Uwe; Dressler, Dirk; Bauer, Peter; Rolfs, Arndt; Muenchau, Alexander; Kaiser, Frank J.; Ozelius, Laurie J.; Jamora, Roland Dominic; Rosales, Raymond L.; Diesta, Cid Czarina E.; Lohmann, Katja; Koenig, Inke R.; Brueggemann, Norbert; Klein, Christine 分享 收藏
Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element Zuin, Jessica; Casali, Valentina; Pozojevic, Jelena; Kolovos, Petros; van den Hout, Mirjam C. G. N.; van Ijcken, Wilfred F. J.; Parenti, Ilaria; Braunholz, Diana; Baron, Yorann; Watrin, Erwan; Kaiser, Frank J.; Wendt, Kerstin S. 分享 收藏
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases Symonds, Joseph D.; Joss, Shelagh; Metcalfe, Kay A.; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M.; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J.; Lampe, Anne K.; Lees, Melissa M.; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P.; Zuberi, Sameer M. 分享 收藏
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes Parenti, Ilaria; Teresa-Rodrigo, Maria E.; Pozojevic, Jelena; Gil, Sara Ruiz; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C.; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M.; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pie, Juan; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J. 分享 收藏
De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Gil-Rodriguez, Maria Concepcion; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernandez-Marcos, Maria; Esperanza Teresa-Rodrigo, Maria; Marcos-Alcalde, Inigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K.; Braunholz, Diana; Bueno-Martinez, Ines; Clark, Dinah; Cooper, Nicola S.; Curry, Cynthia J.; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J.; Kaur, Maninder; Keating, Brendan J.; Kibaek, Maria; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D.; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R.; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D.; Pie, Angeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H.; So, Joyce; Wusik, Katherine A.; Wilson, Louise; Zhang, Jianguo; Gomez-Puertas, Paulino; Casale, Cesar H.; Stroem, Lena; Selicorni, Angelo; Ramos, Feliciano J.; Jackson, Laird G.; Krantz, Ian D.; Das, Soma; Hennekam, Raoul C. M.; Kaiser, Frank J.; FitzPatrick, David R.; Pie, Juan 分享 收藏
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes Bramswig, Nuria C.; Luedecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H.; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillen-Navarro, Encarna; Kiper, Pelin Ozlem Simsek; Lopez-Gonzalez, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J.; Wollnik, Bernd; Strom, Tim M.; Wieczorek, Dagmar 分享 收藏
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics (vol 36, pg 26, 2014) Braunholz, Diana; Obieglo, Carolin; Parenti, Ilaria; Pozojevic, Jelena; Eckhold, Juliane; Reiz, Benedikt; Braenne, Ingrid; Wendt, Kerstin S.; Watrin, Erwan; Vodopiutz, Julia; Rieder, Harald; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J. 分享 收藏
Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics Braunholz, Diana; Obieglo, Carolin; Parenti, Ilaria; Pozojevic, Jelena; Eckhold, Juliane; Reiz, Benedikt; Braenne, Ingrid; Wendt, Kerstin S.; Watrin, Erwan; Vodopiutz, Julia; Rieder, Harald; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J. 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}