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

Homogeneous Polymerization of Kraft Lignin Using an Alkaliphilic Multi-Copper Oxidase (Bilirubin Oxidase) in a Borate Buffer

在硼酸盐缓冲液中,利用亲碱性多铜氧化酶(胆红素氧化酶)进行牛皮纸木质素的均相聚合

Delugeau, Lou; Camy, Aurèle; Alembik, Léna; Poulin, Philippe; Gounel, Sébastien; Mano, Nicolas; Peruch, Frédéric; Grelier, Stéphane

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants

神经纤维瘤病1型患者NF1点变异的精细基因型-表型相关性

Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus P G; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders

从医生和护理人员自我报告的两组DDX3X相关疾病数据中汲取的经验教训

Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Geneviève, David

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

IPO8基因的双等位基因变异会导致结缔组织疾病,该疾病与心血管缺陷、骨骼异常和免疫失调有关。

Ziegler, Alban; Duclaux-Loras, Rémi; Revenu, Céline; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valérie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anaïs; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M; Nayak, Shalini S; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

编码ADAMTS样蛋白6的THSD4基因的致病性变异会导致遗传性胸主动脉瘤。

Elbitar, Sandy; Renard, Marjolijn; Arnaud, Pauline; Hanna, Nadine; Jacob, Marie-Paule; Guo, Dong-Chuan; Tsutsui, Ko; Gross, Marie-Sylvie; Kessler, Ketty; Tosolini, Laurent; Dattilo, Vincenzo; Dupont, Sebastien; Jonquet, Jeremie; Langeois, Maud; Benarroch, Louise; Aubart, Melodie; Ghaleb, Youmna; Abou Khalil, Yara; Varret, Mathilde; El Khoury, Petra; Ho-Tin-Noé, Benoit; Alembik, Yves; Gaertner, Sébastien; Isidor, Bertrand; Gouya, Laurent; Milleron, Olivier; Sekiguchi, Kiyotoshi; Milewicz, Dianna; De Backer, Julie; Le Goff, Carine; Michel, Jean-Baptiste; Jondeau, Guillaume; Sakai, Lynn Y; Boileau, Catherine; Abifadel, Marianne

Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue

唐氏综合症成人的免疫缺陷:对复杂问题的洞察

Yannick Dieudonné, Beatrice Uring-Lambert, Mohamed Maxime Jeljeli, Vincent Gies, Yves Alembik, Anne-Sophie Korganow, Aurélien Guffroy

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

死后基因检测在心脏性死亡和心肌病中的临床意义

Marey, Isabelle; Fressart, Véronique; Rambaud, Caroline; Fornes, Paul; Martin, Laurent; Grotto, Sarah; Alembik, Yves; Gorka, Hervé; Millat, Gilles; Gandjbakhch, Estelle; Bordet, Céline; de la Grandmaison, Geoffroy Lorin; Richard, Pascale; Charron, Philippe

Infection risk among adults with down syndrome: a two group series of 101 patients in a tertiary center

唐氏综合征成人感染风险:一家三级医疗中心101例患者的两组系列研究

Guffroy, Aurélien; Dieudonné, Yannick; Uring-Lambert, Beatrice; Goetz, Joelle; Alembik, Yves; Korganow, Anne-Sophie

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

一种新的 SLC10A7 纯合错义突变导致较轻的牙釉质形成不全性骨骼发育不良表型

Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Agnès Bloch-Zupan

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

MYT1L基因突变通过扰乱神经内分泌下丘脑的基因表达和发育,导致智力障碍和程度不一的肥胖。

Blanchet, Patricia; Bebin, Martina; Bruet, Shaam; Cooper, Gregory M; Thompson, Michelle L; Duban-Bedu, Benedicte; Gerard, Benedicte; Piton, Amelie; Suckno, Sylvie; Deshpande, Charu; Clowes, Virginia; Vogt, Julie; Turnpenny, Peter; Williamson, Michael P; Alembik, Yves; Glasgow, Eric; McNeill, Alisdair