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

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant

由 c.63G>T 变异引起的 Jagunal 同源物 1 (JAGN1) 缺乏症相关的表型变异

Pantea, Cristina-Loredana; Bataneant, Mihaela; Zimbru, Cristian G; Serban, Margit; Puiu, Maria; Chirita-Emandi, Adela

Reactive Infectious Mucocutaneous Eruption (RIME) Associated with Mycoplasma pneumoniae: Clinical and Immunological Insights from Pediatric Cases

与肺炎支原体相关的反应性感染性黏膜皮肤疹(RIME):儿科病例的临床和免疫学见解

Matea, David M; Isac, Raluca; Boeriu, Estera; Urtila, Patricia; Doros, Gabriela; Bataneant, Mihaela; Oprisoni, Andrada L; Arghirescu, Smaranda T

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing

通过基因组测序、外显子组测序和全基因组测序,分析罗马尼亚先天性免疫缺陷患儿的遗传图谱

Pantea, Cristina-Loredana; Bataneant, Mihaela; Zimbru, Cristian G; Dragulescu, Bogdan; Munteanu, Catalin Vasile; Chirita-Emandi, Adela

When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis

肥大细胞失控:新生儿弥漫性皮肤肥大细胞增生症的综合综述和病例研究

Olteanu, Emilian-Gheorghe; Bataneant, Mihaela; Puiu, Maria; Chirita-Emandi, Adela

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

2004年至2021年间,30个J项目国家先天性免疫缺陷患者的护理情况

Abolhassani, Hassan; Avcin, Tadej; Bahceciler, Nerin; Balashov, Dmitry; Bata, Zsuzsanna; Bataneant, Mihaela; Belevtsev, Mikhail; Bernatowska, Ewa; Bidló, Judit; Blazsó, Péter; Boisson, Bertrand; Bolkov, Mikhail; Bondarenko, Anastasia; Boyarchuk, Oksana; Bundschu, Anna; Casanova, Jean-Laurent; Chernishova, Liudmyla; Ciznar, Peter; Csürke, Ildikó; Erdős, Melinda; Farkas, Henriette; Fomina, Daria S; Galal, Nermeen; Goda, Vera; Guner, Sukru Nail; Hauser, Péter; Ilyina, Natalya I; Iremadze, Teona; Iritsyan, Sevan; Ismaili-Jaha, Vlora; Jesenak, Milos; Kelecic, Jadranka; Keles, Sevgi; Kindle, Gerhard; Kondratenko, Irina V; Kostyuchenko, Larysa; Kovzel, Elena; Kriván, Gergely; Kuli-Lito, Georgina; Kumánovics, Gábor; Kurjane, Natalja; Latysheva, Elena A; Latysheva, Tatiana V; Lázár, István; Markelj, Gasper; Markovic, Maja; Maródi, László; Mammadova, Vafa; Medvecz, Márta; Miltner, Noémi; Mironska, Kristina; Modell, Fred; Modell, Vicki; Mosdósi, Bernadett; Mukhina, Anna A; Murdjeva, Marianna; Műzes, Györgyi; Nabieva, Umida; Nasrullayeva, Gulnara; Naumova, Elissaveta; Nagy, Kálmán; Onozó, Beáta; Orozbekova, Bubusaira; Pac, Malgorzata; Pagava, Karaman; Pampura, Alexander N; Pasic, Srdjan; Petrosyan, Mery; Petrovic, Gordana; Pocek, Lidija; Prodeus, Andrei P; Reisli, Ismail; Ress, Krista; Rezaei, Nima; Rodina, Yulia A; Rumyantsev, Alexander G; Sciuca, Svetlana; Sediva, Anna; Serban, Margit; Sharapova, Svetlana; Shcherbina, Anna; Sitkauskiene, Brigita; Snimshchikova, Irina; Spahiu-Konjusha, Shqipe; Szolnoky, Miklós; Szűcs, Gabriella; Toplak, Natasa; Tóth, Beáta; Tsyvkina, Galina; Tuzankina, Irina; Vlasova, Elena; Volokha, Alla

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis

病例报告:DNAJC21基因中新的双等位基因变异导致遗传性骨髓衰竭谱表型:诊断之路

Chirita-Emandi, Adela; Petrescu, Carmen-Angela-Maria; Zimbru, Cristian G; Stoica, Florina; Marian, Catalin; Ciubotaru, Andreea; Bataneant, Mihaela; Puiu, Maria

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

原发性免疫缺陷中的噬血细胞性淋巴组织细胞增生症:对鉴别诊断和发病机制的启示

Bode, Sebastian Fn; Ammann, Sandra; Al-Herz, Waleed; Bataneant, Mihaela; Dvorak, Christopher C; Gehring, Stephan; Gennery, Andrew; Gilmour, Kimberly C; Gonzalez-Granado, Luis I; Groß-Wieltsch, Ute; Ifversen, Marianne; Lingman-Framme, Jenny; Matthes-Martin, Susanne; Mesters, Rolf; Meyts, Isabelle; van Montfrans, Joris M; Pachlopnik Schmid, Jana; Pai, Sung-Yun; Soler-Palacin, Pere; Schuermann, Uta; Schuster, Volker; Seidel, Markus G; Speckmann, Carsten; Stepensky, Polina; Sykora, Karl-Walter; Tesi, Bianca; Vraetz, Thomas; Waruiru, Catherine; Bryceson, Yenan T; Moshous, Despina; Lehmberg, Kai; Jordan, Michael B; Ehl, Stephan