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- Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin
- WHIM Syndrome
- Highly Efficacious, Long-Term, Triglyceride Lowering with Rituximab Therapy in a Patient with Autoimmune Hypertriglyceridemia
- Secondary Hypogammaglobulinemia an Increasingly Recognized Complication of Treatment with Immunomodulators and After Solid Organ Transplantation
- Case Report: X-Linked Recessive Anhidrotic Ectodermal Dysplasia
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- 2019 Update of the IUIS Phenotypical Classification
- Abstracts from the 53Rd European Society of Human Genetics (ESHG) Conference: E-Posters
- Bone Marrow Failure Syndromes Precision Panel Overview
- Long-Term Management of Leukocyte Adhesion Deficiency
- Common Variable Immune Deficiency
- New Diagnostic Criteria Could Distinguish Common Variable
- Chédiak–Higashi Syndrome
- Helper Lymphocytes in Hereditary Hemorrhagic Telangiectasia
- Chronic Thrombocytopenia As the Initial Manifestation of STIM1
- Genetic Syndromes Associated with Immune Abnormalities
- Osteopetrosis
- TNFRSF11A Gene TNF Receptor Superfamily Member 11A
- ARTICLE Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia Due to TNFRSF11A (RANK) Mutations
- Osteopetrosis with Micro-Lacunar Resorption Because of Defective Integrin Organization
- Neurologic Complications of Common Variable Immunodeficiency
- Renal Manifestations of Common Variable Immunodeficiency Tiffany
- Ectodermal Dysplasia: a Genetic Review Ectodermal Dysplasia: a Genetic Review
- Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficiency Diseases
- Meeting of the American Pediatric Society and the Society for Pediatric Research
- Immunodeficiency Syndromes
- The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
- Rare Disease Registries in Europe - June 2020 2
- Long-Term Management of Leukocyte Adhesion Hemostatic and Antimicrobial Treatment, Without HSCT
- Common Variable Immunodeficiency Disorders
- Aia Elise Jønch , Elise Douard , Clara Moreau , Anke Van Dijck , Marzia
- Update on the Use of Immunoglobulin in Human Disease: A&Nbsp
- Hypohidrotic Ectodermal Dysplasia and Immunodeficiency With
- Osteopetroses, Emphasizing Potential Approaches to Treatment Anna Teti1, Michael J. Econs2,3 1Department of Biotechnological
- Multiple Roles of the Protein Tyrosine Phosphate SHP-1 Melissa J
- Prevalence and Incidence of Rare Diseases: Bibliographic Data
- Prevalence and Incidence of Rare Diseases
- Common Variable Immunodeficiency (CVID)
- Prematurity, Hypogammaglobulinemia, and Neuropathology With
- Daratumumab, an Original Approach for Treating Multi-Refractory
- Immune Deficiency & Dysregulation North American Conference
- Fed Pract. 2020;37(Suppl 4):S82-S88. Doi:10.12788/Fp.0033 1 APC Familial Adenomatous Polyposis-1 AD Predisposition to Cancer
- Hypogammaglobulinemia
- Primary Immunodeficiency Disease Mimicking Pediatric Bechet's
- Medical Progress
- The Jackson Laboratory Handbook on Genetically Standardized Mice
- Institute of Anatomy and Biology, Philadelphia, Pennsylvania. Fusion
- To Volume 13