X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
female (5) 5
humans (5) 5
index medicus (5) 5
neutropenia - genetics (5) 5
apoptosis (4) 4
child (4) 4
child, preschool (4) 4
male (4) 4
mutation (4) 4
neutropenia (4) 4
neutropenia - congenital (4) 4
pedigree (4) 4
adolescent (3) 3
adult (3) 3
article (3) 3
dna mutational analysis (3) 3
gene (3) 3
gene mutations (3) 3
genetics & heredity (3) 3
infant (3) 3
unfolded protein response (3) 3
abridged index medicus (2) 2
apoptosis - genetics (2) 2
bacterial infections (2) 2
case-control studies (2) 2
consanguinity (2) 2
deficiency (2) 2
elastase (2) 2
genes (2) 2
genes, recessive (2) 2
genetic aspects (2) 2
mutations (2) 2
myeloid cells - metabolism (2) 2
phenotype (2) 2
proteins (2) 2
research (2) 2
risk factors (2) 2
signal transduction (2) 2
syndrome (2) 2
abnormalities, multiple - genetics (1) 1
activation (1) 1
adaptor proteins, signal transducing (1) 1
adaptor proteins, signal transducing - genetics (1) 1
base sequence (1) 1
bioinformatics (1) 1
birth defects (1) 1
bone marrow (1) 1
brain - abnormalities (1) 1
caspase cleavage (1) 1
causes of (1) 1
cell differentiation - genetics (1) 1
cell survival - genetics (1) 1
cells, cultured (1) 1
chromosome mapping (1) 1
cloning (1) 1
cognitive ability (1) 1
cohen-syndrome (1) 1
colony-stimulating-factor (1) 1
complications and side effects (1) 1
congenital neutropenia (1) 1
death (1) 1
development and progression (1) 1
developmental disabilities - complications (1) 1
developmental disabilities - genetics (1) 1
diagnosis (1) 1
elane mutations (1) 1
endoplasmic-reticulum (1) 1
epilepsy (1) 1
epilepsy - complications (1) 1
epilepsy - congenital (1) 1
epilepsy - genetics (1) 1
exons (1) 1
family (1) 1
gene deletion (1) 1
genetic disorders (1) 1
genetic testing (1) 1
genetics (1) 1
genome-wide association study (1) 1
genomes (1) 1
genomics (1) 1
glucose (1) 1
glucose-6-phosphatase - genetics (1) 1
glucose-6-phosphatase - metabolism (1) 1
glucose-levels (1) 1
glycogen storage disease type i - genetics (1) 1
glycogen-storage-disease (1) 1
glycosylation (1) 1
hax1 (1) 1
hax1 gene (1) 1
health aspects (1) 1
heart defects, congenital - genetics (1) 1
hematology (1) 1
hermansky-pudlak-syndrome (1) 1
homeostasis (1) 1
homeostasis - genetics (1) 1
homozygote (1) 1
identification (1) 1
identification and classification (1) 1
immunobiology (1) 1
immunodeficiency (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 01/2007, Volume 39, Issue 1, pp. 86 - 92
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2009, Volume 360, Issue 1, pp. 32 - 43
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2014, Volume 46, Issue 9, pp. 1021 - 1027
Journal Article
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 12/2010, Volume 152, Issue 12, pp. 3157 - 3163
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2010, Volume 152A, Issue 12, pp. 3157 - 3163
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessive severe congenital neutropenia. Some of these patients... 
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.