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

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

INTU双等位基因变异定义了一种纤毛病,其特征是口面部、手指和心脏异常。

Rushforth, Rebekah; Reynolds, Kurt; Estes, Steven I; Nolan, Daniel K; Mori, Mari; Koboldt, Daniel C; Hunter, Jesse M; Stottmann, Rolf W

Recessive AARS1 variants perturb human and mouse development

隐性AARS1变异会扰乱人类和小鼠的发育

Watts, Jennifer L; Costantino, Nicole; Husami, Ammar; Dayarathna, Thamara; Willeke, Logan; Peña, Loren D M; Seiwert, Elizabeth; Gilbert, Donald L; Stottmann, Rolf W

Ttc21b is required for proper proliferation of neural progenitor cells.

Ttc21b 是神经祖细胞正常增殖所必需的。

Niewoehner Rebekah, Paulding David, Leal Jesus M, Rushforth Rebekah, Stottmann Rolf W

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome

在两名女性中检测到杂合复发性 MAX p.(Arg60Gln) 变异,证实并扩展了多指-巨头综合征的表型谱。

Showpnil, Iftekhar A; Feinstein-Goren, Neta; Greenbaum, Lior; Barel, Ortal; Koboldt, Daniel C; Brugmann, Samantha A; Weaver, Kathryn Nicole; Slavotinek, Anne; Pode-Shakked, Ben; Stottmann, Rolf W

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder

一名患有X连锁神经发育障碍的女性,其新发杂合ZFX移码变异

Showpnil, Iftekhar A; Daley, Allison; Sites, Emily R; Plourde, Shayne M; Hunter, Jesse M; Bartholomew, Dennis W; Lehman, April N; Koboldt, Daniel C; Stottmann, Rolf W

Structure, assembly and inhibition of the Toxoplasma gondii respiratory chain supercomplex

弓形虫呼吸链超复合物的结构、组装和抑制

Andrew E MacLean ,Shikha Shikha ,Mariana Ferreira Silva ,Max J Gramelspacher ,Aaron Nilsen ,Katherine M Liebman ,Sovitj Pou ,Rolf W Winter ,Amit Meir ,Michael K Riscoe ,J Stone Doggett ,Lilach Sheiner ,Alexander Mühleip

Lung Acetate Levels Decline in Correlation With Increased Type 2 Allergic Markers in a House Dust Mite Allergic Mouse Model

在屋尘螨过敏小鼠模型中,肺乙酸盐水平下降与 2 型过敏标志物升高呈正相关

Verstegen, Roos E M; Sparidans, Rolf W; Kostadinova, Atanaska I; Garssen, Johan; Folkerts, Gert; Hendriks, Rudi W; Willemsen, Linette E M

Protein-bound uremic toxin clearance as biomarker of kidney tubular function in diabetic kidney disease

蛋白结合尿毒症毒素清除率作为糖尿病肾病肾小管功能的生物标志物

Ahmed, Sabbir; Sparidans, Rolf W; Vernooij, Robin W M; Mihaila, Silvia M; Broekhuizen, Roel; Goldschmeding, Roel; Nguyen, Tri Q; Masereeuw, Rosalinde; Gerritsen, Karin G F

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome

扩展CSNK2A1相关Okur-Chung神经发育综合征的表型谱

Ramadesikan, Swetha; Showpnil, Iftekhar A; Marhabaie, Mohammad; Daley, Allison; Varga, Elizabeth A; Gurusamy, Umamaheswaran; Pastore, Matthew T; Sites, Emily R; Manickam, Murugu; Bartholomew, Dennis W; Hunter, Jesse M; White, Peter; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C

Pilot randomised controlled trial on the feasibility and intervention satisfaction with an educational group programme for adults with attention deficit hyperactivity disorder and their caregivers

一项关于针对注意力缺陷多动障碍成人及其照护者的教育小组项目的可行性和干预满意度的试点随机对照试验

Skliarova, Tatiana; Gråwe, Rolf W; Vaag, Jonas; Mandahl, Arthur; Kolltveit, Inger; Løvås, Ina; Torgersen, Terje; Lara-Cabrera, Mariela L