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

Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child

一名苏丹儿童患有系统性假性醛固酮增多症-1型伴间歇性血脂异常

Abdalla, Asmahan; Alhassan, Mohammed Abdulrahman; Tawfeeg, Reem; Sanad, Ayman; Tawamie, Hasan; Abdullah, Mohamed

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

由ARPC1B缺陷引起的联合免疫缺陷,伴有严重的感染、炎症和过敏反应。

Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Abu-Halaweh, Marwan; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Brigida, Immacolata; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

TAF13 中的低功能致病变异与常染色体隐性遗传性智力障碍和小头畸形有关

Tawamie Hasan, Martianov Igor, Wohlfahrt Natalie, Buchert Rebecca, Mengus Gabrielle, Uebe Steffen, Janiri Luigi, Hirsch Franz Wolfgang, Schumacher Johannes, Ferrazzi Fulvia, Sticht Heinrich, Reis André, Davidson Irwin, Colombo Roberto, Abou Jamra Rami

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

SPATA5基因突变会导致一种独特的常染色体隐性遗传表型,表现为智力障碍、肌张力低下和听力丧失。

Buchert, Rebecca; Nesbitt, Addie I; Tawamie, Hasan; Krantz, Ian D; Medne, Livija; Helbig, Ingo; Matalon, Dena R; Reis, André; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

一种过氧化物酶体疾病,由脂肪酰辅酶A还原酶1缺乏引起,可导致严重的智力障碍、癫痫和白内障。

Buchert, Rebecca; Tawamie, Hasan; Smith, Christopher; Uebe, Steffen; Innes, A Micheil; Al Hallak, Bassam; Ekici, Arif B; Sticht, Heinrich; Schwarze, Bernd; Lamont, Ryan E; Parboosingh, Jillian S; Bernier, Francois P; Abou Jamra, Rami