未登录 分享 收藏
分享 收藏
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit Smigiel, Robert; Biela, Mateusz; Szmyd, Krzysztof; Bloch, Michal; Szmida, Elzbieta; Skiba, Pawel; Walczak, Anna; Gasperowicz, Piotr; Kosinska, Joanna; Rydzanicz, Malgorzata; Stawinski, Piotr; Biernacka, Anna; Zielinska, Marzena; Golebiowski, Waldemar; Jalowska, Agnieszka; Ohia, Grazyna; Glowska, Bozena; Walas, Wojciech; Krolak-Olejnik, Barbara; Krajewski, Pawel; Sykut-Cegielska, Jolanta; Sasiadek, Maria M.; Ploski, Rafal 分享 收藏
Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers Ralf, Arwin; Lubach, Delano; Kousouri, Nefeli; Winkler, Christian; Schulz, Iris; Roewer, Lutz; Purps, Josephine; Lessig, Ruediger; Krajewski, Pawel; Ploski, Rafal; Dobosz, Tadeusz; Henke, Lotte; Henke, Juergen; Larmuseau, Maarten H. D.; Kayser, Manfred 分享 收藏
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes 散发性心肌病的新生突变分析强调了它们的临床相关性，并指出了新的候选基因 Franaszczyk, Maria; Truszkowska, Grazyna; Chmielewski, Przemyslaw; Rydzanicz, Malgorzata; Kosinska, Joanna; Rywik, Tomasz; Biernacka, Anna; Spiewak, Mateusz; Kostrzewa, Grazyna; Stepien-Wojno, Malgorzata; Stawinski, Piotr; Bilinska, Maria; Krajewski, Pawel; Zielinski, Tomasz; Lutynska, Anna; Bilinska, Zofia T.; Ploski, Rafal 分享 收藏
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders Pienkowski, Victor Murcia; Kucharczyk, Marzena; Mlynek, Marlena; Szczaluba, Krzysztof; Rydzanicz, Malgorzata; Poszewiecka, Barbara; Skorka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosinska, Joanna; Krajewski, Pawel; Castaneda, Jennifer; Obersztyn, Ewa; Jurkiewicz, Elzbieta; Smigiel, Robert; Gambin, Anna; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata; Ploski, Rafal 分享 收藏
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia Smigiel, Robert; Sherman, Diane L.; Rydzanicz, Malgorzata; Walczak, Anna; Mikolajkow, Dorota; Krolak-Olejnik, Barbara; Kosinska, Joanna; Gasperowicz, Piotr; Biernacka, Anna; Stawinski, Piotr; Marciniak, Malgorzata; Andrzejewski, Witalij; Boczar, Maria; Krajewski, Pawel; Sasiadek, Maria M.; Brophy, Peter J.; Ploski, Rafal 分享 收藏
分享 收藏
分享 收藏
分享 收藏
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape (vol 25, pg 2518, 2015) Busby, George B. J.; Hellenthal, Garrett; Montinaro, Francesco; Tofanelli, Sergio; Bulayeva, Kazima; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Toncheva, Draga; Karachanak-Yankova, Sena; Nesheva, Desislava; Anagnostou, Paolo; Cali, Francesco; Brisighelli, Francesca; Romano, Valentino; Lefranc, Gerard; Buresi, Catherine; Ben Chibani, Jemni; Haj-Khelil, Amel; Denden, Sabri; Ploski, Rafal; Krajewski, Pawel; Hervig, Tor; Moen, Torolf; Herrera, Rene J.; Wilson, James F.; Myers, Simon; Capelli, Cristian 分享 收藏
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape Busby, George B. J.; Hellenthal, Garrett; Montinaro, Francesco; Tofanelli, Sergio; Bulayeva, Kazima; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Toncheva, Draga; Karachanak-Yankova, Sena; Nesheva, Desislava; Anagnostou, Paolo; Cali, Francesco; Brisighelli, Francesca; Romano, Valentino; Lefranc, Gerard; Buresi, Catherine; Ben Chibani, Jemni; Haj-Khelil, Amel; Denden, Sabri; Ploski, Rafal; Krajewski, Pawel; Hervig, Tor; Moen, Torolf; Herrera, Rene J.; Wilson, James F.; Myers, Simon; Capelli, Cristian 分享 收藏
Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats 通过快速突变的Y染色体短串联重复序列实现男性个性化 Ballantyne, Kaye N.; Ralf, Arwin; Aboukhalid, Rachid; Achakzai, Niaz M.; Anjos, Maria J.; Ayub, Qasim; Balazic, Joze; Ballantyne, Jack; Ballard, David J.; Berger, Burkhard; Bobillo, Cecilia; Bouabdellah, Mehdi; Burri, Helen; Capal, Tomas; Caratti, Stefano; Cardenas, Jorge; Cartault, Francois; Carvalho, Elizeu F.; Carvalho, Monica; Cheng, Baowen; Coble, Michael D.; Comas, David; Corach, Daniel; D'Amato, Maria E.; Davison, Sean; de Knijff, Peter; De Ungria, Maria Corazon A.; Decorte, Ronny; Dobosz, Tadeusz; Dupuy, Berit M.; Elmrghni, Samir; Gliwinski, Mateusz; Gomes, Sara C.; Grol, Laurens; Haas, Cordula; Hanson, Erin; Henke, Juergen; Henke, Lotte; Herrera-Rodriguez, Fabiola; Hill, Carolyn R.; Holmlund, Gunilla; Honda, Katsuya; Immel, Uta-Dorothee; Inokuchi, Shota; Jobling, Mark A.; Kaddura, Mahmoud; Kim, Jong S.; Kim, Soon H.; Kim, Wook; King, Turi E.; Klausriegler, Eva; Kling, Daniel; Kovacevic, Lejla; Kovatsi, Leda; Krajewski, Pawel; Kravchenko, Sergey; Larmuseau, Maarten H. D.; Lee, Eun Young; Lessig, Ruediger; Livshits, Ludmila A.; Marjanovic, Damir; Minarik, Marek; Mizuno, Natsuko; Moreira, Helena; Morling, Niels; Mukherjee, Meeta; Munier, Patrick; Nagaraju, Javaregowda; Neuhuber, Franz; Nie, Shengjie; Nilasitsataporn, Premlaphat; Nishi, Takeki; Oh, Hye H.; Olofsson, Jill; Onofri, Valerio; Palo, Jukka U.; Pamjav, Horolma; Parson, Walther; Petlach, Michal; Phillips, Christopher; Ploski, Rafal; Prasad, Samayamantri P. R.; Primorac, Dragan; Purnomo, Gludhug A.; Purps, Josephine; Rangel-Villalobos, Hector; Rebala, Krzysztof; Rerkamnuaychoke, Budsaba; Rey Gonzalez, Danel; Robino, Carlo; Roewer, Lutz; Rosa, Alexandra; Sajantila, Antti; Sala, Andrea; Salvador, Jazelyn M.; Sanz, Paula; Schmitt, Cornelia; Sharma, Anil K.; Silva, Dayse A.; Shin, Kyoung-Jin; Sijen, Titia; Sirker, Miriam; Sivakova, Daniela; Skaro, Vedrana; Solano-Matamoros, Carlos; Souto, Luis; Stenzl, Vlastimil; Sudoyo, Herawati; Syndercombe-Court, Denise; Tagliabracci, Adriano; Taylor, Duncan; Tillmar, Andreas; Tsybovsky, Iosif S.; Tyler-Smith, Chris; van der Gaag, Kristiaan J.; Vanek, Daniel; Volgyi, Antonia; Ward, Denise; Willemse, Patricia; Yap, Eric P. H.; Yong, Rita Y. Y.; Pajnic, Irena Zupanic; Kayser, Manfred 分享 收藏
Increased concentration of T-cell receptor rearrangement excision circles (TREC) in peripheral blood in Graves' disease Strawa, Katarzyna; Markowska, Anna; Miskiewicz, Piotr; Kus, Aleksander; Ambroziak, Urszula; Szymanski, Konrad; Zbiec, Renata; Spolnicka, Magdalena; Krajewski, Pawel; Bednarczuk, Tomasz; Ploski, Rafal 分享 收藏
分享 收藏
分享 收藏
Analysis of forensically used autosomal short tandem repeat markers in Polish and neighboring populations Soltyszewski, Ireneusz; Plocienniczak, Andrzej; Fabriciusc, Hans Ake; Kornienko, Igor; Vodolazhsky, Dmitrij; Parson, Walther; Hradil, Roman; Schmitter, Hermann; Ivanov, Pavel; Kuzniar, Piotr; Malyarchuk, Boris A.; Grzybowski, Tomasz; Wozniak, Marcin; Henke, Jurgen; Henke, Lotte; Olkhovets, Sergiv; Voitenko, Vladimir; Lagus, Vita; Ficek, Andrej; Minarik, Gabriel; de Knijff, Peter; Rebala, Krzysztof; Wysocka, Joanna; Kapiska, Ewa; Cybulska, Lidia; Mikulich, Alexei I.; Tsybovsky, Iosif S.; Szczerkowska, Zofia; Krajewski, Pawel; Ploski, Rafal 分享 收藏
Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' disease Kisiel, Bartlomiej; Bednarczuk, Tomasz; Kostrzewa, Grazyna; Kosinska, Joanna; Miskiewicz, Piotr; Plazinska, Maria Teresa; Bar-Andziak, Ewa; Krolicki, Leszek; Krajewski, Pawel; Ploski, Rafal 分享 收藏
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}