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

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort

SATB2相关综合征的口腔表型:法国队列横断面研究

Vegas, Nancy; Rio, Marlène; Adnot, Pauline; Soupre, Véronique; Petit, Florence; Ghoumid, Jamal; Toutain, Annick; Dieterich, Klaus; Marey, Isabelle; Gilbert-Dussardier, Brigitte; Le Guyader, Gwenaël; Francannet, Christine; Schaefer, Elise; Perrin, Laurence; Nizon, Mathilde; Beneteau, Claire; Genevieve, David; Willems, Marjolaine; Faivre, Laurence; Grimaldi, Marianne; Melki, Judith; Stoeva, Radka; Putoux, Audrey; Pons, Linda; Benistan, Karelle; Amiel, Jeanne; Abadie, Véronique

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

常染色体隐性遗传TOR1A相关疾病的临床和遗传谱

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M; Lochmüller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H; Keena, Beth A; Skraban, Cara M; Berger, Seth I; Andrew, Erin H; Rahimian, Elham; Morrow, Michelle M; Wentzensen, Ingrid M; Millan, Francisca; Henderson, Lindsay B; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R; Senderek, Jan; Christodoulou, John; Chung, Wendy K; Goodchild, Rose; Offiah, Amaka C; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension

NPR1基因双等位基因功能缺失变异是新生儿全身性高血压的致病原因。

Capri, Yline; Kwon, Theresa; Boyer, Olivia; Bourmance, Lucas; Testa, Noe; Baudouin, Véronique; Bonnefoy, Ronan; Couderc, Anne; Meziane, Chakib; Tournier-Lasserve, Elisabeth; Heidet, Laurence; Melki, Judith

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

Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype

儿童脑动静脉高流量分流:从基因型到表型

Tas, Berivan; Starnoni, Daniele; Smajda, Stanislas; Vivanti, Alexandre J; Adamsbaum, Catherine; Eyries, Mélanie; Melki, Judith; Tawk, Marcel; Ozanne, Augustin; Revencu, Nicole; Soubrier, Florent; Siala, Selima; Vikkula, Miikka; Deiva, Kumaran; Saliou, Guillaume

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

扩展和强调QIL1/MIC13的肝脑病表型

Russell, Bianca E; Whaley, Kaitlin G; Bove, Kevin E; Labilloy, Anatalia; Lombardo, Rachel C; Hopkin, Robert J; Leslie, Nancy D; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Habes, Dalila; Jardel, Claude; Labarthe, François; Lévy, Jonathan; Lombès, Anne; Mehler-Jacob, Claire; Melki, Judith; Menvielle, Laura; Munnich, Arnold; Mussini, Charlotte; Pichard, Samia; Rio, Marlène; Rötig, Agnès; Sissaoui, Samira; Slama, Abdelhamid; Miethke, Alexander G; Schiff, Manuel

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

法国就利用新一代测序技术诊断肌病的基因列表达成全国共识

Krahn, Martin; Biancalana, Valérie; Cerino, Mathieu; Perrin, Aurélien; Michel-Calemard, Laurence; Nectoux, Juliette; Leturcq, France; Bouchet-Séraphin, Céline; Acquaviva-Bourdain, Cécile; Campana-Salort, Emmanuelle; Molon, Annamaria; Urtizberea, Jon Andoni; Audic, Frédérique; Chabrol, Brigitte; Pouget, Jean; Froissart, Roseline; Melki, Judith; Rendu, John; Petit, François; Métay, Corinne; Seta, Nathalie; Sternberg, Damien; Fauré, Julien; Cossée, Mireille

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

KIF1C变异与异卵双胞胎的髓鞘形成不足、共济失调、震颤和肌张力障碍有关

Marchionni, Enrica; Méneret, Aurélie; Keren, Boris; Melki, Judith; Denier, Christian; Durr, Alexandra; Apartis, Emmanuelle; Boespflug-Tanguy, Odile; Mochel, Fanny

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

外显子组靶向捕获测序检测已知小脑共济失调基因突变的有效性

Coutelier, Marie; Hammer, Monia B; Stevanin, Giovanni; Monin, Marie-Lorraine; Davoine, Claire-Sophie; Mochel, Fanny; Labauge, Pierre; Ewenczyk, Claire; Ding, Jinhui; Gibbs, J Raphael; Hannequin, Didier; Melki, Judith; Toutain, Annick; Laugel, Vincent; Forlani, Sylvie; Charles, Perrine; Broussolle, Emmanuel; Thobois, Stéphane; Afenjar, Alexandra; Anheim, Mathieu; Calvas, Patrick; Castelnovo, Giovanni; de Broucker, Thomas; Vidailhet, Marie; Moulignier, Antoine; Ghnassia, Robert T; Tallaksen, Chantal; Mignot, Cyril; Goizet, Cyril; Le Ber, Isabelle; Ollagnon-Roman, Elisabeth; Pouget, Jean; Brice, Alexis; Singleton, Andrew; Durr, Alexandra

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

CHARGE综合征:利用生物信息学工具和微基因检测分析CHD7 IVS25中反复出现的突变热点

Legendre, Marine; Rodriguez-Ballesteros, Montserrat; Rossi, Massimiliano; Abadie, Véronique; Amiel, Jeanne; Revencu, Nicole; Blanchet, Patricia; Brioude, Frédéric; Delrue, Marie-Ange; Doubaj, Yassamine; Sefiani, Abdelaziz; Francannet, Christine; Holder-Espinasse, Muriel; Jouk, Pierre-Simon; Julia, Sophie; Melki, Judith; Mur, Sébastien; Naudion, Sophie; Fabre-Teste, Jennifer; Busa, Tiffany; Stamm, Stephen; Lyonnet, Stanislas; Attie-Bitach, Tania; Kitzis, Alain; Gilbert-Dussardier, Brigitte; Bilan, Frédéric