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C

Carsten Speckmann

University of Freiburg
H指数:47
被引数:8,037

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The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency

新生儿筛查的战时以外成功:一个关于嘌呤核苷酸磷酸化酶(PNP)缺乏的国际合作案例

2025-09-270
OAAI
Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study
2024-12-011
OAAI
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
2024-02-145
OA
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
2024-02-014
PRE
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
2024-01-0115
PRE
Impact of newborn screening for SCID on the management of congenital athymia

新生儿SCID筛查对先天性厌食症管理的影响

2024-01-012
OAAI
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing
2024-01-010
PRE
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome

结合种系和体细胞人FADD突变导致自身免疫性淋巴增生综合征

2024-01-017
PRE
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

活化的磷酸肌醇3-激酶d综合征: 来自ESID注册表的更新以及与其他自身免疫-淋巴增生先天性免疫错误的比较

2023-10-0116
OAAI
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
2023-02-2723
OAAI
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
2022-12-1413
OAAI
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

有害的NFKB1错义变体影响p105/p50的Rel同源结构域

2022-08-295
OAAI
Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort

严重联合免疫缺陷的造血细胞移植: SCETIDE 2006 2014的欧洲队列

2022-05-0159
OA