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

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

TALDO1基因突变儿童的肝病和肝细胞癌风险

Grammatikopoulos, Tassos; Hadzic, Nedim; Foskett, Pierre; Strautnieks, Sandra; Samyn, Marianne; Vara, Roshni; Dhawan, Anil; Hertecant, Jozef; Al Jasmi, Fatma; Rahman, Obydur; Deheragoda, Maesha; Bull, Laura N; Thompson, Richard J

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Suleiman-El-Hattab 综合征:由 TASP1 缺乏引起的组蛋白修饰障碍

Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosann

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

PCDHGC4基因的双等位基因变异会导致一种新型神经发育综合征,其特征为进行性小头畸形、癫痫发作和关节异常。

Iqbal, Maria; Maroofian, Reza; Çavdarlı, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gökhan

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

基因组测序在诊断中的成功应用:来自临床异质性队列的1007例指标病例

Bertoli-Avella, Aida M; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurașcu, Marius-Ionuț; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

先天性腹泻和胆汁淤积性肝病:与 MYO5B 突变相关的表型谱

Aldrian, Denise; Vogel, Georg F; Frey, Teresa K; Ayyıldız Civan, Hasret; Aksu, Aysel Ünlüsoy; Avitzur, Yaron; Ramos Boluda, Ester; Çakır, Murat; Demir, Arzu Meltem; Deppisch, Caroline; Duba, Hans-Christoph; Düker, Gesche; Gerner, Patrick; Hertecant, Jozef; Hornová, Jarmila; Kathemann, Simone; Koeglmeier, Jutta; Koutroumpa, Arsinoi; Lanzersdorfer, Roland; Lev-Tzion, Raffi; Lima, Rosa; Mansour, Sahar; Meissl, Manfred; Melek, Jan; Miqdady, Mohamad; Montoya, Jorge Hernan; Posovszky, Carsten; Rachman, Yelena; Siahanidou, Tania; Tabbers, Merit; Uhlig, Holm H; Ünal, Sevim; Wirth, Stefan; Ruemmele, Frank M; Hess, Michael W; Huber, Lukas A; Müller, Thomas; Sturm, Ekkehard; Janecke, Andreas R

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

新发 SCN8A 和遗传性罕见 CACNA1H 变异与严重发育性和癫痫性脑病相关

Stringer, Robin N; Jurkovicova-Tarabova, Bohumila; Souza, Ivana A; Ibrahim, Judy; Vacik, Tomas; Fathalla, Waseem Mahmoud; Hertecant, Jozef; Zamponi, Gerald W; Lacinova, Lubica; Weiss, Norbert

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

特定类型的KMT2D错义变异会导致一种与歌舞伎综合征不同的多发性畸形疾病。

Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A; Banka, Siddharth

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

RARS1相关髓鞘形成不足性脑白质营养不良:谱系扩展

Mendes, Marisa I; Green, Lydia M C; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L; Salomons, Gajja S; van der Knaap, Marjo S; Wolf, Nicole I

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

GRM7双等位基因变异会导致癫痫、小头畸形和脑萎缩。

Marafi, Dana; Mitani, Tadahiro; Isikay, Sedat; Hertecant, Jozef; Almannai, Mohammed; Manickam, Kandamurugu; Abou Jamra, Rami; El-Hattab, Ayman W; Rajah, Jaishen; Fatih, Jawid M; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill A; Jhangiani, Shalini N; Boerwinkle, Eric; Akdemir, Zeynep C; Erdin, Serkan; Hunter, Jill V; Gibbs, Richard A; Pehlivan, Davut; Posey, Jennifer E; Lupski, James R

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

内皮功能障碍及精氨酸和瓜氨酸补充剂对患有线粒体疾病的儿童和青少年的影响

Al Jasmi, Fatma; Al Zaabi, Nuha; Al-Thihli, Khalid; Al Teneiji, Amal M; Hertecant, Jozef; El-Hattab, Ayman W