| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Homozygous CARD9 Mutation in a Brazilian Patient with Deep Dermatophytosis
|
Grumach, Anete S.
|
|
2015
|
35 |
5 |
p. 486-490
|
artikel
|
| 2 |
A Novel Pathogenic Variant in PRF1 Associated with Hemophagocytic Lymphohistiocytosis
|
Romero, Camilo Andrés Pérez
|
|
2015
|
35 |
5 |
p. 501-511
|
artikel
|
| 3 |
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy
|
Kisand, Kai
|
|
2015
|
35 |
5 |
p. 463-478
|
artikel
|
| 4 |
Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India
|
Sharma, Varun K.
|
|
2015
|
35 |
5 |
p. 459-462
|
artikel
|
| 5 |
Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome
|
Yin, Suellen Moli
|
|
2015
|
35 |
5 |
p. 435-438
|
artikel
|
| 6 |
IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype
|
Hsu, Amy P.
|
|
2015
|
35 |
5 |
p. 449-453
|
artikel
|
| 7 |
Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)
|
Cohen, Jeffrey I.
|
|
2015
|
35 |
5 |
p. 445-448
|
artikel
|
| 8 |
Lung Magnetic Resonance Imaging with Diffusion Weighted Imaging Provides Regional Structural as well as Functional Information Without Radiation Exposure in Primary Antibody Deficiencies
|
Milito, Cinzia
|
|
2015
|
35 |
5 |
p. 491-500
|
artikel
|
| 9 |
Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia
|
Hirata, Osamu
|
|
2015
|
35 |
5 |
p. 512-516
|
artikel
|
| 10 |
Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases
|
Shiota, Mitsutaka
|
|
2015
|
35 |
5 |
p. 454-458
|
artikel
|
| 11 |
Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome
|
Patel, N. C.
|
|
2015
|
35 |
5 |
p. 479-485
|
artikel
|
| 12 |
Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency
|
Dziadzio, Magdalena
|
|
2015
|
35 |
5 |
p. 439-444
|
artikel
|
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