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

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review

男性DDX3X相关神经发育障碍——一项包含19名男性的新队列研究及文献综述

Kennis, Milou G P; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W; Boelen, Caroline; Marcelis, Carlo L M; de Vries, Bert B A; Elting, Mariet W; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S; Donnelly, Deirdre E; Rogers, R Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cécile; Sallevelt, Suzanne C E H; Maas, Saskia M; Smits, Jeroen J; van Haelst, Mieke M; Levy, Rebecca J; Stewart, Helen; Loeys, Bart L; Pfundt, Rolph; Kleefstra, Tjitske; Snijders Blok, Lot

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

MOGS-CDG的临床、生化和遗传特征:一种罕见的先天性糖基化障碍

Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

常染色体隐性多囊肾病-先天性肝纤维化患者肾脏和肝脏疾病的前瞻性评估

Abdul Majeed, Nehna; Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Veppumthara, Peter; Choyke, Peter L; Turkbey, Ismail B; Heller, Theo; Gahl, William A; Gunay-Aygun, Meral

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation

成人发病型莱氏综合征伴T9176C mtDNA突变患者对免疫疗法的反应

Chuquilin, Miguel; Govindarajan, Raghav; Peck, Dawn; Font-Montgomery, Esperanza

Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?

回复读者来信:为什么莱氏综合征对免疫疗法有反应?

Chuquilin, Miguel; Govindarajan, Raghav; Peck, Dawn; Font Montgomery, Esperanza

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease

对73例常染色体隐性多囊肾病患者的肾功能、肾体积和影像学表现与PKHD1基因突变的相关性分析

Gunay-Aygun, Meral; Font-Montgomery, Esperanza; Lukose, Linda; Tuchman, Maya; Graf, Jennifer; Bryant, Joy C; Kleta, Robert; Garcia, Angelica; Edwards, Hailey; Piwnica-Worms, Katie; Adams, David; Bernardini, Isa; Fischer, Roxanne E; Krasnewich, Donna; Oden, Neal; Ling, Alex; Quezado, Zenaide; Zak, Colleen; Daryanani, Kailash T; Turkbey, Baris; Choyke, Peter; Guay-Woodford, Lisa M; Gahl, William A

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

78名患有常染色体隐性多囊肾病和先天性肝纤维化的儿童和成人的PKHD1序列变异

Gunay-Aygun, Meral; Tuchman, Maya; Font-Montgomery, Esperanza; Lukose, Linda; Edwards, Hailey; Garcia, Angelica; Ausavarat, Surasawadee; Ziegler, Shira G; Piwnica-Worms, Katie; Bryant, Joy; Bernardini, Isa; Fischer, Roxanne; Huizing, Marjan; Guay-Woodford, Lisa; Gahl, William A

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

常染色体隐性多囊肾病和先天性肝纤维化(ARPKD/CHF)

Turkbey, Baris; Ocak, Iclal; Daryanani, Kailash; Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, Maya; Mohan, Parvathi; Heller, Theo; Gahl, William A; Choyke, Peter L; Gunay-Aygun, Meral