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

Adolescent to adult health care transition for persons with intellectual and developmental disability: current barriers, next steps

智力及发育障碍人士从青少年到成人医疗保健过渡:当前障碍及后续步骤

Ramachandran, Shwetha; Stensland, Solveig; Corder, Julie H; Cuomo, Carrie; Dao, Thao-Vi; Natowicz, Marvin R

A most important gift: the critical role of postmortem brain tissue in autism science

一份最重要的礼物:死后脑组织在自闭症科学中的关键作用

Natowicz, Marvin R; Bauman, Margaret L; Edelson, Stephen M

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

27名具有神经发育迟缓表型的个体中,转录共调节因子ZMYM3存在有害的、改变蛋白质的变异

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M

Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics

自闭症代谢组学生物标志物:细胞生物能量学复杂失调的识别

Smith, Alan M; Donley, Elizabeth L R; Ney, Denise M; Amaral, David G; Burrier, Robert E; Natowicz, Marvin R

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder

成人多聚葡萄糖体疾病的蛋白质组学研究:对神经退行性疾病病理生物学的深入理解

Abraham, Joseph R; Allen, Frederick M; Barnard, John; Schlatzer, Daniela; Natowicz, Marvin R

A picture is worth a thousand words: A proposal to incorporate video into the evaluation of adults with intellectual or developmental disability living outside the home

一图胜千言:一项将视频纳入对居住在家庭外的智力或发育障碍成年人评估的提案

Prager, Briana C; Broder, Sherri M; Natowicz, Marvin R

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

MORC2 ATPase 模块的新生突变导致神经发育障碍,伴有生长迟缓和不同程度的颅面畸形

Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A 2nd; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project

儿童自闭症代谢组学计划中采用代谢组学方法筛查自闭症风险

Smith, Alan M; Natowicz, Marvin R; Braas, Daniel; Ludwig, Michael A; Ney, Denise M; Donley, Elizabeth L R; Burrier, Robert E; Amaral, David G

Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes

自闭症脑组织蛋白质组学研究揭示已知和新的致病过程

Abraham, Joseph R; Szoko, Nicholas; Barnard, John; Rubin, Robert A; Schlatzer, Daniela; Lundberg, Kathleen; Li, Xiaolin; Natowicz, Marvin R

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

LTBP3致病变异使个体易患胸主动脉瘤和夹层

Guo, Dong-Chuan; Regalado, Ellen S; Pinard, Amelie; Chen, Jiyuan; Lee, Kwanghyuk; Rigelsky, Christina; Zilberberg, Lior; Hostetler, Ellen M; Aldred, Micheala; Wallace, Stephanie E; Prakash, Siddharth K; Leal, Suzanne M; Bamshad, Michael J; Nickerson, Deborah A; Natowicz, Marvin; Rifkin, Daniel B; Milewicz, Dianna M