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

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

GTF3C3基因的双等位基因变异会导致一种常染色体隐性遗传疾病,并伴有智力障碍。

De Hayr, Lachlan; Blok, Laura E R; Dias, Kerith-Rae; Long, Jingyi; Begemann, Anaïs; Moir, Robyn D; Willis, Ian M; Mocera, Martina; Siegel, Gabriele; Steindl, Katharina; Evans, Carey-Anne; Zhu, Ying; Zhang, Futao; Field, Michael; Ma, Alan; Adès, Lesley; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha S; Tomoum, Hoda; Gregor, Anne; Laube, Julia; Reis, André; Maddirevula, Sateesh; Hashem, Mais O; Zweier, Markus; Alkuraya, Fowzan S; Maroofian, Reza; Buckley, Michael F; Gleeson, Joseph G; Zweier, Christiane; Coll-Tané, Mireia; Koolen, David A; Rauch, Anita; Roscioli, Tony; Schenck, Annette; Harvey, Robert J

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

接触蛋白相关蛋白样2 (CNTNAP-2) 发育障碍的基因型-表型相关性

D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotović, Tomislav; Blazekovic, Antonela; Jercic, Kristina Gotovac; Markovic, Silvana; Zigman, Tamara; Goran, Krnjak; Barišić, Nina; Duranovic, Vlasta; Ban, Ana; Borovecki, Fran; Ramadža, Danijela Petković; Barić, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Rivière, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

整合多组学方法作为代谢性疾病诊断的优秀工具:我们的首批3720例患者

Almeida, Ligia S; Pereira, Catarina; Aanicai, Ruxandra; Schröder, Sabine; Bochinski, Tomasz; Kaune, Anett; Urzi, Alice; Spohr, Tania C L S; Viceconte, Nikenza; Oppermann, Sebastian; Alasel, Mohammed; Ebadat, Saeedeh; Iftikhar, Sana; Jasinge, Eresha; Elsayed, Solaf M; Tomoum, Hoda; Marzouk, Iman; Jalan, Anil B; Cerkauskaite, Agne; Cerkauskiene, Rimante; Tkemaladze, Tinatin; Nadeem, Anjum Muhammad; El Din Mahmoud, Iman Gamal; Mossad, Fawzia Amer; Kamel, Mona; Selim, Laila Abdel; Cheema, Huma Arshad; Paknia, Omid; Cozma, Claudia; Juaristi-Manrique, Carlos; Guatibonza-Moreno, Pilar; Böttcher, Tobias; Vogel, Florian; Pinto-Basto, Jorge; Bertoli-Avella, Aida; Bauer, Peter

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

NDUFA12基因双等位基因功能丧失变异导致广泛的表型谱,从Leigh/Leigh样综合征到孤立性视神经萎缩。

Magrinelli, Francesca; Cali, Elisa; Braga, Vinícius Lopes; Yis, Uluç; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flávio Moura; Barsottini, Orlando Graziani Povoas; Taylor, Robert W; Østergaard, Elsebet; Tamim, Abdullah; Schäferhoff, Karin; Sallum, Juliana Maria Ferraz; Zaki, Maha S; Kok, Fernando; Bhatia, Kailash P; Wissinger, Bernd; Sergeant, Kate; Haack, Tobias B; Horvath, Rita; Hiz, Semra; Alkuraya, Fowzan S; Houlden, Henry; Pedroso, José Luiz; Maroofian, Reza

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

TTC5综合征:一种严重且可识别疾病的临床和分子谱

Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1

埃及戊二酸血症1型患者的临床、生化、神经放射学和分子特征分析

Zayed, Hatem; El Khayat, Hamed; Tomoum, Hoda; Khalifa, Ola; Siddiq, Ehab; Mohammad, Shaimaa A; Gamal, Radwa; Shi, Zumin; Mosailhy, Ahmed; Zaki, Osama K