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

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families

巴基斯坦近亲结婚家庭中隐性遗传性共济失调和神经病变的分子特征分析

Aslam, Faiza; Wajid, Muhammad; Butt, Amina Iftikhar; Wohler, Elizabeth; Seo, Go Hun; Ji, Weizhen; Lakhani, Saquib A; Sobreira, Nara; Naz, Sadaf

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods

17号环状染色体综合征——病例报告及诊断方法探讨

Kim, Sun Young; Wohler, Elizabeth; Gutierrez, Maria Jimena; Sadreameli, Christy; Kossoff, Eric; Sobreira, Nara Lygia

CACNA1D is a circadian gene and causes familial advanced sleep phase

CACNA1D 是一种昼夜节律基因,会导致家族性睡眠提前。

Webb, John M; Abderemane-Ali, Fayal; Ashbrook, Liza; Ma, Mingyang; Nibber, Neha; Zou, Xianlin; Yamazaki, Maya; Wohler, Elizabeth; Sobreira, Nara; Minor, Daniel L Jr; Fu, Ying-Hui; Ptáček, Louis J

Identification and analyses of exonic and copy number variants in spastic paraplegia

痉挛性截瘫中外显子和拷贝数变异的鉴定和分析

Shafique, Anum; Nadeem, Ayesha; Aslam, Faiza; Manzoor, Humera; Noman, Muhammad; Wohler, Elizabeth; Witmer, P Dane; Sobreira, Nara; Naz, Sadaf

Anxiety and dysautonomia symptoms in patients with a Na(V)1.7 mutation and the potential benefits of low-dose short-acting guanfacine.

Na(V)1.7 突变患者的焦虑和自主神经功能障碍症状以及低剂量短效胍法辛的潜在益处

de Cássia Collaço Rita, Lammens Maxime, Blevins Carley, Rodgers Kristen, Gurau Andrei, Yamauchi Suguru, Kim Christine, Forrester Jeannine, Liu Edward, Ha Jinny, Mei Yuping, Boehm Corrine, Wohler Elizabeth, Sobreira Nara, Rowe Peter C, Valle David, Brock Malcolm V, Bosmans Frank

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

在膀胱外翻-尿道上裂复合体中发现罕见的CELSR3外显子变异

Jelin, Angie C; Sopko, Nikolai; Sobreira, Nara; Boyadjiev, Simeon A; Wohler, Elizabeth; Morrill, Christian; Witmer, P Dane; Michaud, Jason; Valle, David; Gearhart, John; Dicarlo, Heather

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

通过膀胱外翻-尿道上裂复合体的三重全外显子组测序鉴定出新生变异

Jelin, Angie C; Wohler, Elizabeth; Martin, Renan; Di Carlo, Heather; Isaacs, William; Ko, Joan; Michaud, Jason; Blakemore, Karin; Valle, David; Sobreira, Nara; Gearhart, John

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis

COL11A2作为椎体畸形和先天性脊柱侧弯的候选基因

Rebello, Denise; Wohler, Elizabeth; Erfani, Vida; Li, Guozhuang; Aguilera, Alexya N; Santiago-Cornier, Alberto; Zhao, Sen; Hwang, Steven W; Steiner, Robert D; Zhang, Terry Jianguo; Gurnett, Christina A; Raggio, Cathleen; Wu, Nan; Sobreira, Nara; Giampietro, Philip F; Ciruna, Brian

Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma

外显子组测序揭示SLC4A11变异是先天性遗传性内皮营养不良症(CHED2)的致病基因,该病曾被误诊为先天性青光眼

Yousaf, Khazeema; Naz, Sadaf; Mushtaq, Asma; Wohler, Elizabeth; Sobreira, Nara; Ho, Bo-Man; Chen, Li-Jia; Chu, Wai-Kit; Bashir, Rasheeda

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

巴西一例由MBTPS2基因罕见变异引起的IFAP综合征病例,该综合征伴有严重的先天性鱼鳞病和肢体畸形。

Migliavacca, Michele Patricia; Fock, Rodrigo Ambrosio; Almeida, Nadia; Cavalcanti, Thereza; Villela, Darine; Perez, Ana Beatriz Alvarez; Valle, David; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Raskin, Salmo