X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (44) 44
index medicus (41) 41
dermatology (31) 31
female (31) 31
mutation (29) 29
male (28) 28
pedigree (18) 18
dna mutational analysis (16) 16
genetic aspects (15) 15
syndrome (11) 11
genetics & heredity (10) 10
molecular biology (10) 10
adolescent (9) 9
biochemistry (9) 9
cell biology (9) 9
child (9) 9
consanguinity (9) 9
skin (9) 9
child, preschool (8) 8
genes, recessive (8) 8
genetic disorders (8) 8
infant (8) 8
adult (7) 7
genetics (7) 7
hair (7) 7
molecular sequence data (7) 7
mutation, missense (7) 7
phenotype (7) 7
research (7) 7
amino acid sequence (6) 6
biopsy (6) 6
calcinosis - genetics (6) 6
diagnosis (6) 6
disease (6) 6
genetic predisposition to disease (6) 6
genetic research (6) 6
ichthyosis (6) 6
israel (6) 6
missense mutation (6) 6
polymerase chain reaction (6) 6
base sequence (5) 5
cells (5) 5
chromosome mapping (5) 5
diseases (5) 5
expression (5) 5
family (5) 5
frameshift mutation (5) 5
gene expression (5) 5
genes (5) 5
homozygote (5) 5
hypotrichosis - genetics (5) 5
ichthyosis - genetics (5) 5
keratins - genetics (5) 5
keratoderma, palmoplantar - genetics (5) 5
skin neoplasms - genetics (5) 5
skin neoplasms - pathology (5) 5
article (4) 4
calcinosis (4) 4
codon, nonsense (4) 4
epidermolysis bullosa simplex - genetics (4) 4
gene (4) 4
gene mutations (4) 4
genomics (4) 4
haplotypes (4) 4
identification (4) 4
keratin-14 (4) 4
lamellar ichthyosis (4) 4
microsatellite repeats (4) 4
mutations (4) 4
n-acetylgalactosaminyltransferases - genetics (4) 4
phosphate (4) 4
proteins (4) 4
skin - pathology (4) 4
young adult (4) 4
abridged index medicus (3) 3
alopecia (3) 3
analysis (3) 3
apoptosis (3) 3
cadherins - genetics (3) 3
causes of (3) 3
chromosome abnormalities (3) 3
diagnosis, differential (3) 3
differentiation (3) 3
disorders (3) 3
dna - genetics (3) 3
domain (3) 3
ectodermal dysplasia - genetics (3) 3
exons - genetics (3) 3
family health (3) 3
fgf23 (3) 3
fibroblast-growth-factor-23 (3) 3
galnt3 (3) 3
genotype & phenotype (3) 3
glycosylation (3) 3
heterozygote (3) 3
hypotrichosis (3) 3
immunohistochemistry (3) 3
integumentary system (3) 3
jews - genetics (3) 3
keratin-5 (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
Clinical Case Reports, ISSN 2050-0904, 03/2018, Volume 6, Issue 3, pp. 476 - 478
Skin biopsy may be helpful in the diagnosis of H syndrome. A triad of dermal fibrosis, lymphocytic aggregates, and numerous CD 68+, CD 163+, S100‐positive, and... 
histopathology | recurrent mutation | H syndrome | phenotypic variability | Genotype & phenotype | Genetic disorders | Systemic diseases | Lymphocytes | Dermatology | Biopsy
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2008, Volume 82, Issue 1, pp. 39 - 47
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2008, Volume 82, Issue 5, pp. 1114 - 1121
Journal Article
Journal Article