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

Targeting mycobacterial transpeptidases: evaluating the roles of Ldt and PBP inhibition in suppressing Mycobacterium smegmatis

靶向分枝杆菌转肽酶:评估 Ldt 和 PBP 抑制在抑制耻垢分枝杆菌中的作用

de Munnik, Mariska; Calvopiña, Karina; Rabe, Patrick; Schofield, Christopher J

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

CUL3相关神经发育障碍:20例新患者的临床表型及潜在表型相关表观遗传特征的鉴定

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

<italic>IGF1</italic> Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients

<italic>IGF1</italic>单倍体不足:9例患者的表型及对生长激素治疗的反应

Joustra, Sjoerd D; Punt, Lauren D; van der Kaay, Daniëlle C M; van Setten, Petra A; de Groote, Kirsten; Kruijsen, Anne R; Bocca, Gianni; de Munnik, Sonja A; Renes, Judith S; de Bruin, Christiaan; Losekoot, Monique; van Duyvenvoorde, Hermine A; Wit, Jan M; Joustra, Sjoerd D

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

生殖系ERG单倍体不足定义了一种新的综合征,其特征是血细胞减少和血液系统恶性肿瘤易感性

Zerella, Jiarna R; Homan, Claire C; Arts, Peer; Lin, Xuzhu; Spinelli, Sam J; Venugopal, Parvathy; Babic, Milena; Brautigan, Peter J; Truong, Lynda; Arriola-Martinez, Luis; Moore, Sarah; Hollins, Rachel; Parker, Wendy T; Nguyen, Hung; Kassahn, Karin S; Branford, Susan; Feurstein, Simone; Larcher, Lise; Sicre de Fontbrune, Flore; Demirdas, Serwet; de Munnik, Sonja; Antoine-Poirel, Hélène; Brichard, Benedicte; Mansour, Sahar; Gordon, Kristiana; Wlodarski, Marcin W; Koppayi, Ashwin; Dobbins, Sara; Mutsaers, Pim G N J; Nichols, Kim E; Oak, Ninad; DeMille, Desiree; Mao, Rong; Crawford, Ali; McCarrier, Julie; Basel, Donald; Flores-Daboub, Josue; Drazer, Michael W; Phillips, Kerry; Poplawski, Nicola K; Birdsey, Graeme M; Pirri, Daniela; Ostergaard, Pia; Simons, Annet; Godley, Lucy A; Ross, David M; Hiwase, Devendra K; Soulier, Jean; Brown, Anna L; Carmichael, Catherine L; Scott, Hamish S; Hahn, Christopher N

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

基于临床级全基因组测序的单倍体技术能够进行所有形式的胚胎植入前遗传学检测。

Janssen, Anouk E J; Koeck, Rebekka M; Essers, Rick; Cao, Ping; van Dijk, Wanwisa; Drüsedau, Marion; Meekels, Jeroen; Yaldiz, Burcu; van de Vorst, Maartje; de Koning, Bart; Hellebrekers, Debby M E I; Stevens, Servi J C; Sun, Su Ming; Heijligers, Malou; de Munnik, Sonja A; van Uum, Chris M J; Achten, Jelle; Hamers, Lars; Naghdi, Marjan; Vissers, Lisenka E L M; van Golde, Ron J T; de Wert, Guido; Dreesen, Jos C F M; de Die-Smulders, Christine; Coonen, Edith; Brunner, Han G; van den Wijngaard, Arthur; Paulussen, Aimee D C; Zamani Esteki, Masoud

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

TREX 四聚体的破坏改变了 THOC6 智力障碍综合征中皮质生成所必需的 RNA 加工

Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Kro

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

揭示MECOM相关综合征的各个方面:体细胞基因拯救、克隆性造血和表型扩展

Venugopal, Parvathy; Arts, Peer; Fox, Lucy C; Simons, Annet; Hiwase, Devendra K; Bardy, Peter G; Swift, Annette; Ross, David M; van Vulpen, Lize F D; Buijs, Arjan; Bolton, Kelly L; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S B; Bournazos, Adam M; Cooper, Sandra T; Ha, Thuong Thi; Jackson, Matilda R; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P; Poplawski, Nicola K; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L; Hahn, Christopher N; Scott, Hamish S

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

遗传性心脏病胚胎植入前基因检测临床指南

Verdonschot, Job A J; Hellebrekers, Debby M E I; van Empel, Vanessa P M; Heijligers, Malou; de Munnik, Sonja; Coonen, Edith; Dreesen, Jos C M F; van den Wijngaard, Arthur; Brunner, Han G; Zamani Esteki, Masoud; Heymans, Stephane R B; de Die-Smulders, Christine E M; Paulussen, Aimée D C

Biochemical and crystallographic studies of L,D-transpeptidase 2 from Mycobacterium tuberculosis with its natural monomer substrate

对结核分枝杆菌 L,D-转肽酶 2 及其天然单体底物进行生化和晶体学研究

de Munnik, Mariska; Lang, Pauline A; Calvopiña, Karina; Rabe, Patrick; Brem, Jürgen; Schofield, Christopher J

High-throughput screen with the l,d-transpeptidase Ldt(Mt2) of Mycobacterium tuberculosis reveals novel classes of covalently reacting inhibitors

利用结核分枝杆菌的L,D-转肽酶Ldt(Mt2)进行高通量筛选,揭示了新型共价反应抑制剂。

de Munnik, Mariska; Lang, Pauline A; De Dios Anton, Francisco; Cacho, Mónica; Bates, Robert H; Brem, Jürgen; Rodríguez Miquel, Beatriz; Schofield, Christopher J