日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation

我是谁?眉毛毛囊可最大限度减少造血干细胞移植后生殖系检测中供体来源的DNA

Mertens, Matthias; Sadlo, Mona; Kühl, Jörn-Sven; Metzeler, Klaus; Zschenderlein, Louisa; Edelmann, Jeanett; Lehmann, Claudia; Thull, Sarah; Karakaya, Mert; Velmans, Clara; Tumewu, Theresa; Böhme, Matthias; Klötzer, Christina; Weigert, Anne; Vucinic, Vladan; Hentschel, Julia; Mertens, Mareike

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

由同义ADSL变异引起的腺苷酸琥珀酸裂解酶缺乏症的严重产前表现,该变异导致异常剪接

Klapperich, Aysegül; Skopova, Vaclava; Karakaya, Mert; Velmans, Clara; Netzer, Christian; Strizek, Brigitte; Mrazova, Lenka Steiner; Zikanova, Marie

Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans

GRHL2基因单倍体不足与人类唇腭裂有关

Curtis, Sarah W; Yang, Cinderella; Sanchis-Juan, Alba; Singleton, Katherine; Beaty, Terri H; Erger, Florian; Epstein, Michael P; Feingold, Eleanor; Krause, Max; Moreno Uribe, Lina M; Netzer, Christian; Padilla, Carmencita D; Shaffer, John R; Weinberg, Seth M; Carlson, Jenna C; Velmans, Clara; Murray, Jeffrey C; Dworkin, Seb; Marazita, Mary L; Brand, Harrison; Leslie-Clarkson, Elizabeth J

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects

与儿童肠道假性梗阻 (PIPO) 和脑发育缺陷相关的新型 KIF26A 变异

Nosrati, Mohammad Sadegh Shams; Doustmohammadi, Alireza; Severino, Mariasavina; Romano, Ferruccio; Zafari, Mahdi; Nemati, Amir Hesam; Velmans, Clara; Netzer, Christian; Breuer, Jonas; Broekaert, Ilse Julia; Joachim, Alexander; Almasri, Nihad; Kruer, Michael C; Skidmore, Peter; Bisarad, Pritha; Hoque, Jumana; Bakhtiari, Somayeh; Torella, Annalaura; Nigro, Vincenzo; Buffelli, Francesca; Fulcheri, Ezio; Müller, Annette; Zara, Federico; Capra, Valeria; Scala, Marcello

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB

由PDGFRB基因中新型激活型伊马替尼反应性变异引起的角膜婴儿型肌纤维瘤病

Howaldt, Antonia; Lenglez, Sandrine; Velmans, Clara; Schultheis, Anne Maria; Clahsen, Thomas; Matthaei, Mario; Kohlhase, Jürgen; Vokuhl, Christian; Büttner, Reinhard; Netzer, Christian; Demoulin, Jean-Baptiste; Cursiefen, Claus

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

GestaltMatcher数据库——罕见人类疾病面部表型变异的全球参考数据库

Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Klinkhammer, Hannah; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M; Pantel, Jean Tori; Hagen, Merle Ten; Thong, Meow-Keong; Mazlan, Rifhan Azwani Binti; Tae, Sok Kun; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Jacob, Maureen; Peron, Angela; Dias, Cristina; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Weiland, Hannah; Kaptain, Sophia; Chwiałkowska, Karolina; Kwasniewski, Miroslaw; Saad, Ramy; Wiethoff, Sarah; Goel, Himanshu; Tang, Clara; Hau, Anna; Barakat, Tahsin Stefan; Panek, Przemysław; Nabil, Amira; Suh, Julia; Braun, Frederik; Gomy, Israel; Averdunk, Luisa; Ekure, Ekanem; Bergant, Gaber; Peterlin, Borut; Graziano, Claudio; Gaboon, Nagwa; Fiesco-Roa, Moisés; Spinelli, Alessandro Mauro; Wilpert, Nina-Maria; Phowthongkum, Prasit; Güzel, Nergis; Haack, Tobias B; Bitar, Rana; Tzschach, Andreas; Rodriguez-Palmero, Agusti; Brunet, Theresa; Rudnik-Schöneborn, Sabine; Contreras-Capetillo, Silvina Noemi; Oberlack, Ava; Samango-Sprouse, Carole; Sadeghin, Teresa; Olaya, Margaret; Platzer, Konrad; Borovikov, Artem; Schnabel, Franziska; Heuft, Lara; Herrmann, Vera; Oegema, Renske; Elkhateeb, Nour; Kumar, Sheetal; Komlosi, Katalin; Mohamed, Khoushoua; Kalantari, Silvia; Sirchia, Fabio; Martinez-Monseny, Antonio F; Höller, Matthias; Toutouna, Louiza; Mohamed, Amal; Lasa-Aranzasti, Amaia; Sayer, John A; Ehmke, Nadja; Danyel, Magdalena; Sczakiel, Henrike; Schwartzmann, Sarina; Boschann, Felix; Zhao, Max; Adam, Ronja; Einicke, Lara; Horn, Denise; Chew, Kee Seang; Kam, Choy Chen; Karakoyun, Miray; Pode-Shakked, Ben; Eliyahu, Aviva; Rock, Rachel; Carrion, Teresa; Chorin, Odelia; Zarate, Yuri A; Conti, Marcelo Martinez; Karakaya, Mert; Tung, Moon Ley; Chandra, Bharatendu; Bouman, Arjan; Lumaka, Aime; Wasif, Naveed; Shinawi, Marwan; Blackburn, Patrick R; Wang, Tianyun; Niehues, Tim; Schmidt, Axel; Roth, Regina Rita; Wieczorek, Dagmar; Hu, Ping; Waikel, Rebekah L; Ledgister Hanchard, Suzanna E; Elmakkawy, Gehad; Safwat, Sylvia; Ebstein, Frédéric; Krüger, Elke; Küry, Sébastien; Bézieau, Stéphane; Arlt, Annabelle; Olinger, Eric; Marbach, Felix; Li, Dong; Dupuis, Lucie; Mendoza-Londono, Roberto; Houge, Sofia Douzgou; Weis, Denisa; Chung, Brian Hon-Yin; Mak, Christopher C Y; Kayserili, Hülya; Elcioglu, Nursel; Aykut, Ayca; Şimşek-Kiper, Peli Özlem; Bögershausen, Nina; Wollnik, Bernd; Bentzen, Heidi Beate; Kurth, Ingo; Netzer, Christian; Jezela-Stanek, Aleksandra; Devriendt, Koen; Gripp, Karen W; Mücke, Martin; Verloes, Alain; Schaaf, Christian P; Nellåker, Christoffer; Solomon, Benjamin D; Nöthen, Markus M; Abdalla, Ebtesam; Lyon, Gholson J; Krawitz, Peter M; Hsieh, Tzung-Chien

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

GestaltMatcher数据库——罕见人类疾病面部表型变异的全球参考数据库

Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Klinkhammer, Hannah; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M; Pantel, Jean Tori; Hagen, Merle Ten; Thong, Meow-Keong; Binti Mazlan, Rifhan Azwani; Tae, Sok Kun; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Jacob, Maureen; Peron, Angela; Dias, Cristina; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Weiland, Hannah; Kaptain, Sophia; Chwiałkowska, Karolina; Kwasniewski, Miroslaw; Saad, Ramy; Wiethoff, Sarah; Goel, Himanshu; Tang, Clara; Hau, Anna; Barakat, Tahsin Stefan; Panek, Przemysław; Nabil, Amira; Suh, Julia; Braun, Frederik; Gomy, Israel; Averdunk, Luisa; Ekure, Ekanem; Bergant, Gaber; Peterlin, Borut; Graziano, Claudio; Gaboon, Nagwa; Fiesco-Roa, Moisés; Spinelli, Alessandro Mauro; Wilpert, Nina-Maria; Phowthongkum, Prasit; Güzel, Nergis; Haack, Tobias B; Bitar, Rana; Tzschach, Andreas; Rodriguez-Palmero, Agusti; Brunet, Theresa; Rudnik-Schöneborn, Sabine; Contreras-Capetillo, Silvina Noemi; Oberlack, Ava; Samango-Sprouse, Carole; Sadeghin, Teresa; Olaya, Margaret; Platzer, Konrad; Borovikov, Artem; Schnabel, Franziska; Heuft, Lara; Herrmann, Vera; Oegema, Renske; Elkhateeb, Nour; Kumar, Sheetal; Komlosi, Katalin; Mohamed, Khoushoua; Kalantari, Silvia; Sirchia, Fabio; Martinez-Monseny, Antonio F; Höller, Matthias; Toutouna, Louiza; Mohamed, Amal; Lasa-Aranzasti, Amaia; Sayer, John A; Ehmke, Nadja; Danyel, Magdalena; Sczakiel, Henrike; Schwartzmann, Sarina; Boschann, Felix; Zhao, Max; Adam, Ronja; Einicke, Lara; Horn, Denise; Chew, Kee Seang; Kam, Choy Chen; Karakoyun, Miray; Pode-Shakked, Ben; Eliyahu, Aviva; Rock, Rachel; Carrion, Teresa; Chorin, Odelia; Zarate, Yuri A; Conti, Marcelo Martinez; Karakaya, Mert; Tung, Moon Ley; Chandra, Bharatendu; Bouman, Arjan; Lumaka, Aime; Wasif, Naveed; Shinawi, Marwan; Blackburn, Patrick R; Wang, Tianyun; Niehues, Tim; Schmidt, Axel; Roth, Regina Rita; Wieczorek, Dagmar; Hu, Ping; Waikel, Rebekah L; Ledgister Hanchard, Suzanna E; Elmakkawy, Gehad; Safwat, Sylvia; Ebstein, Frédéric; Krüger, Elke; Küry, Sébastien; Bézieau, Stéphane; Arlt, Annabelle; Olinger, Eric; Marbach, Felix; Li, Dong; Dupuis, Lucie; Mendoza-Londono, Roberto; Houge, Sofia Douzgou; Weis, Denisa; Chung, Brian Hon-Yin; Mak, Christopher C Y; Kayserili, Hülya; Elcioglu, Nursel; Aykut, Ayca; Şimşek-Kiper, Peli Özlem; Bögershausen, Nina; Wollnik, Bernd; Bentzen, Heidi Beate; Kurth, Ingo; Netzer, Christian; Jezela-Stanek, Aleksandra; Devriendt, Koen; Gripp, Karen W; Mücke, Martin; Verloes, Alain; Schaaf, Christian P; Nellåker, Christoffer; Solomon, Benjamin D; Nöthen, Markus M; Abdalla, Ebtesam; Lyon, Gholson J; Krawitz, Peter M; Hsieh, Tzung-Chien

A new SARS-CoV-2 variant with high lethality poorly detected by RT-PCR on nasopharyngeal samples: an observational study

一种新型高致死性SARS-CoV-2变种病毒难以通过鼻咽拭子RT-PCR检测:一项观察性研究

Fillâtre, Pierre; Dufour, Marie-José; Behillil, Sylvie; Vatan, Rémi; Reusse, Pascale; Gabellec, Alice; Velmans, Nicolas; Montagne, Catherine; Geffroy Du Coudret, Sophie; Droumaguet, Edith; Merour, Véronique; Enouf, Vincent; Buzelé, Rodolphe; Valence, Marion; Guillotel, Elena; Gagnière, Bertrand; Baidaliuk, Artem; Zhukova, Anna; Tourdjman, Mathieu; Thibault, Vincent; Grolhier, Claire; Pronier, Charlotte; Lescure, François-Xavier; Simon-Loriere, Etienne; Costagliola, Dominique; Van Der Werf, Sylvie; Tattevin, Pierre; Massart, Nicolas

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

奥唐奈-卢里亚-罗丹综合征:第二个多国队列的描述及表型谱的完善

Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-Them, Frederic; Vitobello, Antonio; Chan, Marcus Cy; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid M B H; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian H Y; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian