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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice

长效甲状旁腺激素受体激动剂可纠正常染色体显性低钙血症1型小鼠的低钙血症。

Hannan, Fadil M; Stevenson, Mark; Elajnaf, Taha; Rostom, Hussam; Lines, Kate E; Stewart, Michelle; Wells, Sara; Moir, Lee; Gardella, Thomas J; Thakker, Rajesh V

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Artificial Intelligence for the Detection of Fetal Ultrasound Findings Concerning for Major Congenital Heart Defects

利用人工智能检测胎儿超声检查中与重大先天性心脏缺陷相关的发现

Zelop, Carolyn M; Lam-Rachlin, Jennifer; Arunamata, Alisa; Punn, Rajesh; Behera, Sarina K; Lachaud, Matthias; David, Nadine; DeVore, Greggory R; Rebarber, Andrei; Fox, Nathan S; Gayanilo, Marjorie; Garmel, Sara; Boukobza, Philippe; Uzan, Pierre; Joly, Hervé; Girardot, Romain; Cohen, Laurence; Stos, Bertrand; De Boisredon, Malo; Askinazi, Eric; Thorey, Valentin; Gardella, Christophe; Levy, Marilyne; Geiger, Miwa

Use of Artificial Intelligence-Based Software to Aid in the Identification of Ultrasound Findings Associated With Fetal Congenital Heart Defects

利用人工智能软件辅助识别与胎儿先天性心脏缺陷相关的超声检查结果

Lam-Rachlin, Jennifer; Punn, Rajesh; Behera, Sarina K; Geiger, Miwa; Lachaud, Matthias; David, Nadine; Garmel, Sara; Fox, Nathan S; Rebarber, Andrei; DeVore, Greggory R; Zelop, Carolyn M; Janssen, Matthew K; Sylvester-Armstrong, Kendra R; Kennedy, John; Spiegelman, Jessica; Heiligenstein, Mia; Bessis, Roger; Mobeen, Sadia; Kia, Farnaaz; Friedman, Caroline; Melka, Stephanie; Stos, Bertrand; De Boisredon, Malo; Askinazi, Eric; Thorey, Valentin; Gardella, Christophe; Levy, Marilyne; Arunamata, Alisa

A Preliminary proteomics-based assessment of biotic indicators in Central Mexican water bodies biotic indicators by proteomics in Mexican water bodies

基于蛋白质组学的墨西哥中部水体生物指标初步评估

Gardella-García, Catalina E; Domínguez-de-la-Cruz, Eduardo; Pérez-Ramírez, Gerardo; David, Randy E; Chacón-Hernández, Juan Enrique; Cotino-Nájera, Sandra; Muñoz, María de Lourdes

Prolonging parathyroid hormone analog action in vitro and in vivo through peptide lipidation.

通过肽脂化延长甲状旁腺激素类似物在体外和体内的作用

Höppner Jakob, Noda Hiroshi, Anitha Anju Krishnan, Cheloha Ross W, Dean Thomas, Bruce Michael, Brooks Daniel J, Mannstadt Michael, Bouxsein Mary L, Gellman Samuel H, Khatri Ashok, Jüppner Harald, Gardella Thomas J

Maskless Synthesis of van der Waals Heterostructure Arrays Engineered for Light Harvesting on Large Area Templates

无掩模合成用于大面积模板光捕获的范德华异质结构阵列

Gardella, Matteo; Zambito, Giorgio; Ferrando, Giulio; Barusso, Lorenzo Ferrari; Chennuboina, Rajesh; Repetto, Luca; Barelli, Matteo; Giordano, Maria Caterina; Buatier de Mongeot, Francesco

Circulating cell-free RNA signatures for the characterization and diagnosis of myalgic encephalomyelitis/chronic fatigue syndrome

循环游离RNA特征用于肌痛性脑脊髓炎/慢性疲劳综合征的表征和诊断

Gardella, Anne E; Eweis-LaBolle, Daniel; Loy, Conor J; Belcher, Emma D; Lenz, Joan S; Franconi, Carl J; Scofield, Sally Y; Grimson, Andrew; Hanson, Maureen R; De Vlaminck, Iwijn

A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.

詹森氏干骺端软骨发育不良的小鼠模型,用于研究疾病机制和候选疗法

Höppner Jakob, Firat Damla, Parvez-Khan Mohd, Reyes Monica, Hanna Patrick, Yadav Prem Swaroop, Dean Thomas, Ramos-Torres Karla M, Brugarolas Pedro, Collins Michael T, Wein Marc N, Liu Shi, Gellman Samuel H, Schipani Ernestina, Kronenberg Henry M, Gardella Thomas J, Jüppner Harald