| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma
|
Al-Saud, Bandar
|
|
|
40 |
6 |
p. 833-839
|
artikel
|
| 2 |
A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation
|
Conti, Francesca
|
|
|
40 |
6 |
p. 927-933
|
artikel
|
| 3 |
Bourgeoning Scientific Research in Down Syndrome
|
Bogunovic, Dusan
|
|
|
40 |
6 |
p. 789-790
|
artikel
|
| 4 |
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients
|
Meshaal, Safa
|
|
|
40 |
6 |
p. 820-832
|
artikel
|
| 5 |
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
|
Schnappauf, Oskar
|
|
|
40 |
6 |
p. 917-926
|
artikel
|
| 6 |
Haploidentical Hematopoietic Stem Cell Transplantation for XIAP Deficiency: a Single-Center Report
|
Yang, Jun
|
|
|
40 |
6 |
p. 893-900
|
artikel
|
| 7 |
Inborn Errors of Adaptive Immunity in DownSyndrome
|
Verstegen, Ruud H.J.
|
|
|
40 |
6 |
p. 791-806
|
artikel
|
| 8 |
Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2
|
Le Voyer, Tom
|
|
|
40 |
6 |
p. 948-953
|
artikel
|
| 9 |
Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect
|
Khodzhaev, Khusan
|
|
|
40 |
6 |
p. 883-892
|
artikel
|
| 10 |
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients
|
Mahdaviani, Seyed Alireza
|
|
|
40 |
6 |
p. 872-882
|
artikel
|
| 11 |
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
|
Blincoe, Annaliesse
|
|
|
40 |
6 |
p. 901-916
|
artikel
|
| 12 |
Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats’ Disease and Literature Review
|
Shabani, Mahsima
|
|
|
40 |
6 |
p. 940-947
|
artikel
|
| 13 |
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis
|
Akdogan, Neslihan
|
|
|
40 |
6 |
p. 934-939
|
artikel
|
| 14 |
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
|
Saettini, Francesco
|
|
|
40 |
6 |
p. 851-860
|
artikel
|
| 15 |
Proteomic Analysis of the Acid-Insoluble Fraction of Whole Saliva from Patients Affected by Different Forms of Non-histaminergic Angioedema
|
Firinu, Davide
|
|
|
40 |
6 |
p. 840-850
|
artikel
|
| 16 |
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
|
Kong, Xiao-Fei
|
|
|
40 |
6 |
p. 807-819
|
artikel
|
| 17 |
Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
|
Laberko, Alexandra
|
|
|
40 |
6 |
p. 861-871
|
artikel
|
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