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

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping

利用全基因组测序和光学基因组图谱对5例ROHHAD-NET患者进行基因评估。

van Engelen, N; van Santen, H M; van Dijk, F; Kleisman, M M; Merks, J H M; Schouten-van Meeteren, A Y N; Kamping, E J; Neveling, K; Hoischen, A; Jongmans, M C J; Kuiper, R P

A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia

一名患有前体B细胞白血病的儿科患者中发现一种新的生殖系PAX5单外显子缺失

van Engelen, N; Roest, M; van Dijk, F; Sonneveld, E; Bladergroen, R; van Reijmersdal, S V; van der Velden, V H J; Hoogeveen, P G; Kors, W A; Waanders, E; Jongmans, M C J; Kuiper, R P

A multicentre study on spontaneous in-cage activity and micro-environmental conditions of IVC housed C57BL/6J mice during consecutive cycles of bi-weekly cage-change

一项多中心研究调查了在连续两周换笼周期中,体外循环饲养的C57BL/6J小鼠的笼内自发活动和微环境条件。

Ulfhake, B; Lerat, H; Honetschlager, J; Pernold, K; Rynekrová, M; Escot, K; Recordati, C; Kuiper, R V; Rosati, G; Rigamonti, M; Zordan, S; Prins, J-B

Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

一名发育迟缓和弥漫性大B细胞淋巴瘤患儿存在包含MSH6和FBXO11基因的2p16.3缺失

van Engelen, N; van Dijk, F; Waanders, E; Buijs, A; Vermeulen, M A; Loeffen, J L C; Kuiper, R P; Jongmans, M C J

Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

年轻FH基因突变携带者肾细胞癌:病例系列及文献综述

Hol, J A; Jongmans, M C J; Littooij, A S; de Krijger, R R; Kuiper, R P; van Harssel, J J T; Mensenkamp, A; Simons, M; Tytgat, G A M; van den Heuvel-Eibrink, M M; van Grotel, M

Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach

利用孟德尔随机化方法评估肥胖相关性状对多发性骨髓瘤的影响

Went, M; Sud, A; Law, P J; Johnson, D C; Weinhold, N; Försti, A; van Duin, M; Mitchell, J S; Chen, B; Kuiper, R; Stephens, O W; Bertsch, U; Campo, C; Einsele, H; Gregory, W M; Henrion, M; Hillengass, J; Hoffmann, P; Jackson, G H; Lenive, O; Nickel, J; Nöthen, M M; da Silva Filho, M I; Thomsen, H; Walker, B A; Broyl, A; Davies, F E; Langer, C; Hansson, M; Kaiser, M; Sonneveld, P; Goldschmidt, H; Hemminki, K; Nilsson, B; Morgan, G J; Houlston, R S

Synergistic functions of E2F7 and E2F8 are critical to suppress stress-induced skin cancer.

E2F7 和 E2F8 的协同作用对于抑制应激诱发的皮肤癌至关重要

Thurlings I, Martínez-López L M, Westendorp B, Zijp M, Kuiper R, Tooten P, Kent L N, Leone G, Vos H J, Burgering B, de Bruin A

The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery

结直肠癌易感性的遗传异质性——基因发现指南

Hahn, M M; de Voer, R M; Hoogerbrugge, N; Ligtenberg, M J L; Kuiper, R P; van Kessel, A Geurts

Localization of p24 putative cargo receptors in the early secretory pathway depends on the biosynthetic activity of the cell

p24假定货物受体在早期分泌途径中的定位取决于细胞的生物合成活性。

Kuiper, R P; Bouw, G; Janssen, K P; Rötter, J; van Herp, F; Martens, G J

Differential induction of two p24delta putative cargo receptors upon activation of a prohormone-producing cell

激活前激素产生细胞后,两种p24δ假定货物受体的差异性诱导

Kuiper, R P; Waterham, H R; Rötter, J; Bouw, G; Martens, G J