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

Use of US Blood Donors for National Serosurveillance of Severe Acute Respiratory Syndrome Coronavirus 2 Antibodies: Basis for an Expanded National Donor Serosurveillance Program

利用美国献血者进行严重急性呼吸综合征冠状病毒2抗体全国血清学监测:扩大全国献血者血清学监测计划的基础

Stone, Mars; Di Germanio, Clara; Wright, David J; Sulaeman, Hasan; Dave, Honey; Fink, Rebecca V; Notari, Edward P; Green, Valerie; Strauss, Donna; Kessler, Debbie; Destree, Mark; Saa, Paula; Williamson, Phillip C; Simmons, Graham; Stramer, Susan L; Opsomer, Jean; Jones, Jefferson M; Kleinman, Steven; Busch, Michael P

Psychopathology in adult transgender people

成年跨性别者的精神病理学

Hartmann, Jessica A; McGorry, Patrick D; Destree, Louise; Amminger, G Paul; Chanen, Andrew M; Davey, Christopher G; Ghieh, Rachid; Polari, Andrea; Ratheesh, Aswin; Yuen, Hok Pan; Nelson, Barnaby; Castellini, G; Ristori, J; Steensma, T

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

非近亲结婚和近亲结婚原发性小头畸形的表型和基因型:癫痫发病率高

Duerinckx, Sarah; Désir, Julie; Perazzolo, Camille; Badoer, Cindy; Jacquemin, Valérie; Soblet, Julie; Maystadt, Isabelle; Tunca, Yusuf; Blaumeiser, Bettina; Ceulemans, Berten; Courtens, Winnie; Debray, François-Guillaume; Destree, Anne; Devriendt, Koenraad; Jansen, Anna; Keymolen, Kathelijn; Lederer, Damien; Loeys, Bart; Meuwissen, Marije; Moortgat, Stéphanie; Mortier, Geert; Nassogne, Marie-Cécile; Sekhara, Tayeb; Van Coster, Rudy; Van Den Ende, Jenny; Van der Aa, Nathalie; Van Esch, Hilde; Vanakker, Olivier; Verhelst, Helene; Vilain, Catheline; Weckhuysen, Sarah; Passemard, Sandrine; Verloes, Alain; Aeby, Alec; Deconinck, Nicolas; Van Bogaert, Patrick; Pirson, Isabelle; Abramowicz, Marc

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

143例ARID1B患者的疾病谱:从非综合征性智力障碍到科芬-西里斯综合征

van der Sluijs, Pleuntje J; Jansen, Sandra; Vergano, Samantha A; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K; Bok, Levinus A; Brouwer, Alwin F J; van der Burgt, Ineke; Campeau, Philippe M; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W Y; Chung, Brain H Y; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R; Herkert, Johanna C; den Hollander, Nicolette S; Horn, Denise; Hunt, David; Kant, Sarina G; Kato, Mitsuhiro; Kayserili, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M S; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B; Netzer, Christian; Ockeloen, Charlotte W; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N M; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G; Rosello, Monica; Ruivenkamp, Claudia A L; Sagiroglu, Mahmut S; Sallevelt, Suzanne C E H; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P A; Stumpel, Constance T R M; Tanabe, Saori; Uctepe, Eyyup; Utine, G Eda; Veenstra-Knol, Hermine E; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T; Wheeler, Patricia; Wilson, Golder N; Wilson, Louise C; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B A; Clayton-Smith, Jill; Santen, Gijs W E

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

更正:143 例 ARID1B 患者的疾病谱:从非综合征性智力障碍到科芬-西里斯综合征

van der Sluijs, Pleuntje J; Jansen, Sandra; Vergano, Samantha A; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K; Bok, Levinus A; Brouwer, Alwin F J; van der Burgt, Ineke; Campeau, Philippe M; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W Y; Chung, Brain H Y; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R; Herkert, Johanna C; den Hollander, Nicolette S; Horn, Denise; Hunt, David; Kant, Sarina G; Kato, Mitsuhiro; Kayserili, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M S; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B; Netzer, Christian; Ockeloen, Charlotte W; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N M; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G; Rosello, Monica; Ruivenkamp, Claudia A L; Sagiroglu, Mahmut S; Sallevelt, Suzanne C E H; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P A; Stumpel, Constance T R M; Tanabe, Saori; Uctepe, Eyyup; Utine, G Eda; Veenstra-Knol, Hermine E; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T; Wheeler, Patricia; Wilson, Golder N; Wilson, Louise C; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B A; Clayton-Smith, Jill; Santen, Gijs W E

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Schinzel-Giedion 综合征和血液系统恶性肿瘤中 SETBP1 功能获得性突变的重叠

Acuna-Hidalgo Rocio, Deriziotis Pelagia, Steehouwer Marloes, Gilissen Christian, Graham Sarah A, van Dam Sipko, Hoover-Fong Julie, Telegrafi Aida B, Destree Anne, Smigiel Robert, Lambie Lindsday A, Kayserili Hülya, Altunoglu Umut, Lapi Elisabetta, Uzielli Maria Luisa, Aracena Mariana, Nur Banu G, Mihci Ercan, Moreira Lilia M A, Borges Ferreira Viviane, Horovitz Dafne D G, da Rocha Katia M, Jezela-Stanek Aleksandra, Brooks Alice S, Reutter Heiko, Cohen Julie S, Fatemi Ali, Smitka Martin, Grebe Theresa A, Di Donato Nataliya, Deshpande Charu, Vandersteen Anthony, Marques Lourenço Charles, Dufke Andreas, Rossier Eva, Andre Gwenaelle, Baumer Alessandra, Spencer Careni, McGaughran Julie, Franke Lude, Veltman Joris A, De Vries Bert B A, Schinzel Albert, Fisher Simon E, Hoischen Alexander, van Bon Bregje W

Interventions to Improve Adherence to a Hypoglycemia Protocol

改善低血糖方案依从性的干预措施

Destree, Lani; Vercellino, Mary; Armstrong, Nancy

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

携带影响 p.Arg1809 的 NF1 错义突变的患者中,努南综合征特征(包括身材矮小和肺动脉狭窄)的发生率较高:基因型-表型相关性

Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

Generation of hybrid genes and proteins by vaccinia virus-mediated recombination: application to human immunodeficiency virus type 1 env

利用痘苗病毒介导的重组产生杂合基因和蛋白质:应用于1型人类免疫缺陷病毒环境蛋白

Gritz, L; Destree, A; Cormier, N; Day, E; Stallard, V; Caiazzo, T; Mazzara, G; Panicali, D