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

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

全面的基因分型和临床特征分析揭示了 27 种新的 NKX2-1 突变,并扩展了表型谱

Thorwarth Anne, Schnittert-Hübener Sarah, Schrumpf Pamela, Müller Ines, Jyrch Sabine, Dame Christof, Biebermann Heike, Kleinau Gunnar, Katchanov Juri, Schuelke Markus, Ebert Grit, Steininger Anne, Bönnemann Carsten, Brockmann Knut, Christen Hans-Jürgen, Crock Patricia, deZegher Francis, Griese Matthias, Hewitt Jacqueline, Ivarsson Sten, Hübner Christoph, Kapelari Klaus, Plecko Barbara, Rating Dietz, Stoeva Iva, Ropers Hans-Hilger, Grüters Annette, Ullmann Reinhard, Krude Heiko