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

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

Knowledge, Practices, and Perceptions of the Healthcare Providers on Cervical Cancer Screening Among HIV-Positive Women at Lira Regional Referral Hospital, Lira City

利拉市利拉地区转诊医院医护人员对艾滋病毒感染女性宫颈癌筛查的知识、实践和看法

Layet, Florence; Murungi, Tom; Ashaba, Nasser; Nakayita, Renniter Mirembe; Kigongo, Eustes; Opollo, Marc Sam

Factors associated with utilization of cervical cancer screening services among HIV-positive women aged 18 to 49 years at Lira regional referral hospital, Northern Uganda

乌干达北部利拉地区转诊医院18至49岁HIV阳性女性宫颈癌筛查服务利用情况的相关因素

Layet, Florence; Murungi, Tom; Ashaba, Nasser; Kigongo, Eustes; Opollo, Marc Sam

High-energy interference-free K-lines synchrotron X-ray fluorescence microscopy of rare earth elements in hyperaccumulator plants

利用高能无干扰K线同步辐射X射线荧光显微镜研究超富集植物中的稀土元素

van der Ent, Antony; Brueckner, Dennis; Spiers, Kathryn M; Falch, Ken Vidar; Falkenberg, Gerald; Layet, Clément; Liu, Wen-Shen; Zheng, Hong-Xiang; Le Jean, Marie; Blaudez, Damien

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

未确诊先天性多发性关节挛缩症的表型谱和基因组学

Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith

Severe Phenotype in Patients with Large Deletions of NF1

NF1 大片段缺失患者的严重表型

Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfu

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

新发TBR1变异导致伴有智力障碍和自闭症特征的神经认知表型:25例新病例报告及文献综述

Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valérie; Amram, Daniel; Boute-Bénéjean, Odile; Bhoj, Elizabeth; Cousin, Margot A; Kruisselbrink, Teresa M; Lanpher, Brendan C; Klee, Eric W; Fiala, Elise; Grange, Dorothy K; Meschino, Wendy S; Hiatt, Susan M; Cooper, Gregory M; Olivié, Hilde; Smith, Wendy E; Dumas, Meghan; Lehman, Anna; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C; Pajusalu, Sander; Õunap, Katrin; Filiano, James J; Smol, Thomas; Piton, Amélie; Gérard, Bénédicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poé, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Rivière, Jean-Baptiste; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B; Hevner, Robert; Thauvin-Robinet, Christel

Lessons learned from 40 novel PIGA patients and a review of the literature

从40例新型PIGA患者中汲取的经验教训及文献综述

Bayat, Allan; Knaus, Alexej; Pendziwiat, Manuela; Afenjar, Alexandra; Barakat, Tahsin Stefan; Bosch, Friedrich; Callewaert, Bert; Calvas, Patrick; Ceulemans, Berten; Chassaing, Nicolas; Depienne, Christel; Endziniene, Milda; Ferreira, Carlos R; Moura de Souza, Carolina Fischinger; Freihuber, Cécile; Ganesan, Shiva; Gataullina, Svetlana; Guerrini, Renzo; Guerrot, Anne-Marie; Hansen, Lars; Jezela-Stanek, Aleksandra; Karsenty, Caroline; Kievit, Anneke; Kooy, Frank R; Korff, Christian M; Kragh Hansen, Johanne; Larsen, Martin; Layet, Valérie; Lesca, Gaetan; McBride, Kim L; Meuwissen, Marije; Mignot, Cyril; Montomoli, Martino; Moore, Hannah; Naudion, Sophie; Nava, Caroline; Nougues, Marie-Christine; Parrini, Elena; Pastore, Matthew; Schelhaas, Jurgen H; Skinner, Steven; Szczałuba, Krzysztoł; Thomas, Ashley; Thomassen, Mads; Tranebjaerg, Lisbeth; van Slegtenhorst, Marjon; Wolfe, Lynne A; Lal, Dennis; Gardella, Elena; Bomme Ousager, Lilian; Brünger, Tobias; Helbig, Ingo; Krawitz, Peter; Møller, Rikke S

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

对一组与早衰综合征(包括层粘蛋白病及相关疾病)相关的基因进行为期4年的分子遗传学诊断的结果

Grelet, Maude; Blanck, Véronique; Sigaudy, Sabine; Philip, Nicole; Giuliano, Fabienne; Khachnaoui, Khaoula; Morel, Godelieve; Grotto, Sarah; Sophie, Julia; Poirsier, Céline; Lespinasse, James; Alric, Laurent; Calvas, Patrick; Chalhoub, Gihane; Layet, Valérie; Molin, Arnaud; Colson, Cindy; Marsili, Luisa; Edery, Patrick; Lévy, Nicolas; De Sandre-Giovannoli, Annachiara

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

GRIN1基因的新生突变会导致广泛的双侧多小脑回畸形

Fry Andrew E, Fawcett Katherine A, Zelnik Nathanel, Yuan Hongjie, Thompson Belinda A N, Shemer-Meiri Lilach, Cushion Thomas D, Mugalaasi Hood, Sims David, Stoodley Neil, Chung Seo-Kyung, Rees Mark I, Patel Chirag V, Brueton Louise A, Layet Valérie, Giuliano Fabienne, Kerr Michael P, Banne Ehud, Meiner Vardiella, Lerman-Sagie Tally, Helbig Katherine L, Kofman Laura H, Knight Kristin M, Chen Wenjuan, Kannan Varun, Hu Chun, Kusumoto Hirofumi, Zhang Jin, Swanger Sharon A, Shaulsky Gil H, Mirzaa Ghayda M, Muir Alison M, Mefford Heather C, Dobyns William B, Mackenzie Amanda B, Mullins Jonathan G L, Lemke Johannes R, Bahi-Buisson Nadia, Traynelis Stephen F, Iago Heledd F, Pilz Daniela T