X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (42) 42
mutation (28) 28
immunology (26) 26
index medicus (26) 26
male (26) 26
female (22) 22
adult (15) 15
abridged index medicus (14) 14
article (14) 14
apoptosis (11) 11
child (11) 11
activation (10) 10
lymphocytes (10) 10
research (10) 10
allergy (9) 9
mutations (9) 9
autoimmune lymphoproliferative syndrome - genetics (8) 8
deficiency (8) 8
disease (8) 8
genetic aspects (8) 8
hematology (8) 8
immunodeficiency (8) 8
medicine, research & experimental (8) 8
adolescent (7) 7
child, preschool (7) 7
common variable immunodeficiency (7) 7
defects (7) 7
dna mutational analysis (7) 7
gene (7) 7
haploinsufficiency (7) 7
middle aged (7) 7
patients (7) 7
proteins (7) 7
fas receptor - genetics (6) 6
flow cytometry (6) 6
gene mutations (6) 6
infant (6) 6
magnesium - blood (6) 6
patient (6) 6
pedigree (6) 6
age (5) 5
analysis (5) 5
expression (5) 5
immune system (5) 5
immunobiology (5) 5
kinases (5) 5
mice (5) 5
t-lymphocytes - metabolism (5) 5
transcription factors (5) 5
autoimmune diseases - genetics (4) 4
autoimmune diseases - pathology (4) 4
autoimmune lymphoproliferative syndrome - diagnosis (4) 4
autoimmune lymphoproliferative syndrome - immunology (4) 4
base sequence (4) 4
cells, cultured (4) 4
children (4) 4
cytokines (4) 4
diagnosis (4) 4
dna sequencing (4) 4
immunologic deficiency syndromes - genetics (4) 4
lymphocytes t (4) 4
medical laboratory technology (4) 4
molecular sequence data (4) 4
mutation analysis (4) 4
physiological aspects (4) 4
polymerase chain reaction (4) 4
serum (4) 4
syndrome alps (4) 4
young adult (4) 4
age of onset (3) 3
amino acids (3) 3
animals (3) 3
autoimmune diseases (3) 3
autoimmune diseases - immunology (3) 3
autoimmune lymphoproliferative syndrome (3) 3
b-lymphocytes - immunology (3) 3
bacterial infections (3) 3
biomarkers (3) 3
cell proliferation (3) 3
defective lymphocyte (3) 3
deoxyribonucleic acid--dna (3) 3
differentiation (3) 3
ectodermal dysplasia - genetics (3) 3
exons (3) 3
families (3) 3
families & family life (3) 3
features (3) 3
gene expression (3) 3
genetic research (3) 3
genetics & heredity (3) 3
genotype & phenotype (3) 3
germ-line mutation (3) 3
germline mutations (3) 3
homeostasis (3) 3
hyper-igm syndrome (3) 3
i-kappa b kinase - genetics (3) 3
immunoblotting (3) 3
immunoglobulins (3) 3
infant, newborn (3) 3
infectious diseases (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Pediatrics, ISSN 0031-4005, 11/2013, Volume 132, Issue 5, pp. e1440 - e1440
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. It presents... 
Journal Article
Science, ISSN 0036-8075, 09/2014, Volume 345, Issue 6204, pp. 1623 - 1627
Journal Article
Blood, ISSN 0006-4971, 01/2015, Volume 125, Issue 4, pp. 591 - 599
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2016, Volume 374, Issue 11, pp. 1032 - 1043
Journal Article
Nature Immunology, ISSN 1529-2908, 01/2014, Volume 15, Issue 1, pp. 88 - 97
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 2014, Volume 5, pp. 1 - 7
Background: Primary immunodeficiencies (PIDs) are a diverse group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for PID... 
Next-generation sequencing | Genotype-phenotype correlation | Mutation analysis | SNV | Sanger sequencing | INDEL | Primary immunodeficiency | next-generation sequencing | mutation analysis | genotype-phenotype correlation | primary immunodeficiency | IMMUNOLOGY | diagnosis | massively parallel sequencing
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2007, Volume 104, Issue 21, pp. 8953 - 8958
The p21 RAS subfamily of small GTPases, including KRAS, HRAS, and NRAS, regulates cell proliferation, cytoskeletal organization, and other signaling networks,... 
T lymphocytes | Messenger RNA | Cytokines | Lymphocytes | B lymphocytes | Epithelial cells | Small interfering RNA | Immunoblotting | Genetic mutation | Apoptosis | Autoimmunity | B cell lymphoma 2-interacting mediator of cell death | Lymphoma | Lymphoproliferation | Intrinsic apoptosis | IMMUNE-RESPONSE | APOPTOSIS | FACIO-CUTANEOUS SYNDROME | N-RAS | MULTIDISCIPLINARY SCIENCES | lymphoma | BIM | intrinsic apoptosis | NOONAN-SYNDROME | CELL-DEATH | SIGNAL-TRANSDUCTION | autoimmunity | GERMLINE MUTATIONS | GENE-EXPRESSION | lymphoproliferation | Proto-Oncogene Proteins - metabolism | ras Proteins - genetics | Apoptosis - drug effects | Down-Regulation | Humans | Autoimmune Diseases - immunology | Cells, Cultured | ras Proteins - metabolism | Gene Expression Profiling | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - immunology | Extracellular Signal-Regulated MAP Kinases - metabolism | Mutation - genetics | Lymphoproliferative Disorders - pathology | Apoptosis Regulatory Proteins - metabolism | Lymphoproliferative Disorders - metabolism | Autoimmune Diseases - genetics | Proto-Oncogene Proteins c-bcl-2 - metabolism | Bcl-2-Like Protein 11 | RNA Interference | Interleukin-2 - pharmacology | Membrane Proteins - metabolism | Autoimmune Diseases - metabolism | Autoimmune Diseases - pathology | Lymphoproliferative disorders | Research | B cells | Cytoskeleton | Lymphomas | Immunology | Mutation | Autoimmune diseases | Biological Sciences
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3071 - 3087
Journal Article
Blood, ISSN 0006-4971, 2013, Volume 121, Issue 16, pp. 3117 - 3125
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2018, Volume 77, Issue 4, pp. 612 - 619
Journal Article