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

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants

携带ALPL变异的无症状个体低磷酸血症的生化表型

Montero-Lopez, Rodrigo; Farman, Mariam R; Högler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Ángel; Linglart, Agnès; Ozono, Keiichi; Seefried, Lothar; Del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T; Tauer, Josephine T; Kishnani, Priya S; Högler, Wolfgang

The ALPL gene variant project: results of the first 100 reclassified variants

ALPL基因变异项目:首批100个重新分类变异的结果

Mariam R Farman ,Theodora Malli ,Catherine Rehder ,Gerald Webersinke ,Cheryl Rockman-Greenberg ,Kathryn Dahir ,Gabriel Á Martos-Moreno ,Agnès Linglart ,Keiichi Ozono ,Lothar Seefried ,Guillermo Del Angel ,Francesca Barbazza ,Sara Shojaei ,Jessica Ebner-Jahn ,Florian Högler ,Erica B Nading ,Erin Huggins ,Eric T Rush ,Ahmed El-Gazzar ,Josephine T Tauer ,Priya S Kishnani ,Wolfgang Högler

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia

启动子缺失导致原发性纤毛运动障碍病例中等位基因特异性表达,该病例的遗传病因尚未明确

Beaman, M Makenzie; Yin, Weining; Smith, Amanda J; Sears, Patrick R; Leigh, Margaret W; Ferkol, Thomas W; Kearney, Brendan; Olivier, Kenneth N; Kimple, Adam J; Clarke, Shannon; Huggins, Erin; Nading, Erica; Jung, Seung-Hye; Iyengar, Apoorva K; Zou, Xue; Dang, Hong; Barrera, Alejandro; Majoros, William H; Rehder, Catherine W; Reddy, Timothy E; Ostrowski, Lawrence E; Allen, Andrew S; Knowles, Michael R; Zariwala, Maimoona A; Crawford, Gregory E

Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series

接受酶替代疗法的婴儿庞贝病长期生存者的肺部结局指标:病例系列研究

ElMallah, Mai K; Desai, Ankit K; Nading, Erica B; DeArmey, Stephanie; Kravitz, Richard M; Kishnani, Priya S

Introduction: Human Animal Health in Medical Anthropology

引言:医学人类学中的人类与动物健康

Brown, Hannah; Nading, Alex M

Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia

对视神经发育不全患者的 ATOH7 基因进行测序分析

Lim, Sing-Hui; St Germain, Elizabeth; Tran-Viet, Khanh-Nhat; Staffieri, Sandra; Marino, Meghan; Dollfus, Pr Hélène; Nading, Erica B; Crowe, Sue; Gole, Glen; Perdomo-Trujillo, Yaumara; Haybittel, Michael; Elder, James; Pelletier, Valérie; Traboulsi, Elias; Mackey, David; Young, Terri L

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia

SCO2基因突变与常染色体显性遗传性高度近视相关

Tran-Viet, Khanh-Nhat; Powell, Caldwell; Barathi, Veluchamy A; Klemm, Thomas; Maurer-Stroh, Sebastian; Limviphuvadh, Vachiranee; Soler, Vincent; Ho, Candice; Yanovitch, Tammy; Schneider, Georg; Li, Yi-Ju; Nading, Erica; Metlapally, Ravikanth; Saw, Seang-Mei; Goh, Liang; Rozen, Steve; Young, Terri L

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States

美国原发性先天性青光眼患者的CYP1B1、MYOC和LTBP2基因突变

Lim, Sing-Hui; Tran-Viet, Khanh-Nhat; Yanovitch, Tammy L; Freedman, Sharon F; Klemm, Thomas; Call, Whitney; Powell, Caldwell; Ravichandran, Ajay; Metlapally, Ravikanth; Nading, Erica B; Rozen, Steve; Young, Terri L

Pregnancy and estrogen receptor beta expression in a large congenital nevus

妊娠与大型先天性痣中雌激素受体β的表达

Nading, Mary Alice; Nanney, Lillian B; Ellis, Darrel L

Estrogen receptor beta expression in nevi during pregnancy

妊娠期痣中雌激素受体β的表达

Nading, Mary Alice; Nanney, Lillian B; Boyd, Alan S; Ellis, Darrel L