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

CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.

CAMT-MPL:由 MPL 突变引起的先天性巨核细胞性血小板减少症 - 单基因疾病的异质性 - 56 例患者的综合分析

Germeshausen Manuela, Ballmaier Matthias

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

一种用于诊断遗传性出血、血栓和血小板疾病的高通量测序检测方法

Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie-Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W M; Henskens, Yvonne M C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M; Nathwani, Amit; Neerman-Arbez, Marguerite; Nurden, Alan T; Nurden, Paquita; Othman, Maha; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Reitsma, Pieter; Rondina, Matthew T; Smethurst, Peter A; Stevenson, William; Szkotak, Artur; Tuna, Salih; van Geet, Christel; Whitehorn, Deborah; Wilcox, David A; Zhang, Bin; Revel-Vilk, Shoshana; Gresele, Paolo; Bellissimo, Daniel B; Penkett, Christopher J; Laffan, Michael A; Mumford, Andrew D; Rendon, Augusto; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Turro, Ernest

Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias

流式细胞术检测MPL(CD110)作为鉴别先天性血小板减少症的诊断工具

Ballmaier, Matthias; Holter, Wolfgang; Germeshausen, Manuela

Digenic mutations in severe congenital neutropenia

严重先天性中性粒细胞减少症的双基因突变

Germeshausen, Manuela; Zeidler, Cornelia; Stuhrmann, Manfred; Lanciotti, Marina; Ballmaier, Matthias; Welte, Karl

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

DYSCERNE:欧洲畸形学专业中心网络

Schneider, Hauke; Lingesleben, Alexandra; Vogel, Hans-Peter; Garuti, Rita; Calandra, Sebastiano; Koutouzov, Sophie; Palau, Francesc; Wild, Claudia; Heemstra, Harald; Barton, David; Aymé, Ségolène; Mehta, Anil; McCormick, Jonathan; Macek, Milan Jr; Rath, Ana; Aymé, Ségolène; Bellet, Bertrand; Adjibi, Yolande; Micallef, Joëlle; Blin, Olivier; Auld, Joanne; Rose, Michael; Seyedsadjadi, Reza; Solberg, Olga; Miller, Jeanette Ullmann; Heivang, Synne; Bjerke, Mads; Jensen, Lene; Holm, Birthe Byskov; Midro, Alina T; Haus, Olga; Kobel-Buys, Krystyna; Wierzba, Jolanta; Zajączek, Stanisław; Deybach, Jean-Charles; Parker, Samantha; Badmiton, Mike; Sandberg, Sverre; Myrvang, Vigdis Hegna; Thorsen, Kirsten; Searle, Beverly; Middlemiss, Prisca; Wynn, Sarah; Hulten, Maj; Zimmermann, Martine; Taruscio, Domenica; Vittozzi, Luciano; Griffiths, Pam; Strong, Kate; Gardner, Sara; Day, Ruth; Harrison, Caroline; Bronwyn, Kerr; Metcalfe, Kay; Brunner, Han; Donnai, Dian; Dallapiccola, Bruno; Devriendt, Koenraad; Krajewska-Walasek, Malgorzata; Philip, Nicole; Clayton-Smith, Jill; Trocello, Jean-Marc; Zeidler, Cornelia; Pracht, Gusal; Germeshausen, Manuela; Welte, Karl; Wierzba, Yolanta; Jaglowska, Joanna; Suszka, Emilia G; Bernatowska, Ewa; Pac, Malgorzata; Marynowicz, Dorota; Hivert, Virginie; Martin, Natalia; Hanauer, Marc; Aymé, Ségolène; Vittozzi, Luciano; Hoffmann, Georg F; Cornel, Martina; Loeber, Gerard; Armayones, Manuel; Hernández-Encuentra, Eulàlia; Gómez-Zúñiga, Beni; Guillamon, Noemí; Ontiveros, Gerardo; Bosque, Ana; Nafría, Begonya; Kvlividze, Oleg; Chigladze, Tamar; Tvaliashvili, George; Galdava, George; Mavris, Maria; Bignami, Fabrizia; Hernberg-Ståhl, Elizabeth; Smit, Cees; Goossens, Greetje; von Gizycki, Rainald; Nourissier, Christel; Greek-Winald, Christina; Gustafsson, Birgitta; Högvik, Lisbeth; Moliner, Antoni Montserrat; Aymé, Ségolène; Sykut-Cegielska, Jolanta; Van der Zeijden, Albert; Huizer, Jolanda; Pogany, Gabor; Facchin, Paola; Dan, Dorica; Kole, Anna A; le Cam, Yann; Aksnes, Stein Are; Gabreëls, Fons JM; Huizer, Jolanda S; Le Henanff, Guillaume; Tchernia, Gil; van Betuw, Annet; Stamsnijder, Marjet; Aymé, Ségolène; Rath, Ana; Bellet, Bertrand; Czerniawska, Marta; Modell, Fred; Jovanovic, Mariana; Dequeker, Els; Desmet, Lieve; Morris, Michael; Cassiman, Jean-Jacques; Aymé, Ségolène; Martin, Natalia; Doulet, Nicolas; Hivert, Virginie; Aymé, Ségolène; Mehta, Anil; Mehta, Gita; Macek, Milan; Mikos, Marcin; Krzyzanowski, Mikolaj; Cichy, Wojciech; Wojtowicz, Pawel; Sandurska, Anna; McCormack, Pauline; Wallentin, Ute; Suchert, Steffen; Hennekam, Raoul CM; Pohla-Gubo, Gabriela; Bushby, Kate; Chrzanowska, Krystyna; Clayton-Smith, Jill; Day, Ruth; Griffiths, Pamela

International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

国际登记库:一组异质性疾病的遗传和表型特征

Tränkenschuh, Wolfgang; Puls, Florian; Christgen, Matthias; Albat, Cord; Heim, Albert; Poczkaj, Jeanette; Fleming, Peer; Kreipe, Hans; Lehmann, Ulrich; Wenzel, Gentiana; Lim, Hubert; Zhang, Kaiyin; Balster, Sven; Massow, Ole; Lubatschowski, Holger; Reuter, Guenter; Lenarz, Thomas; Zeidler, Cornelia; Pracht, Gusal; Germeshausen, Manuela; Welte, Karl