X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (6730) 6730
Book Review (809) 809
Newsletter (381) 381
Publication (244) 244
Book Chapter (56) 56
Magazine Article (36) 36
Conference Proceeding (26) 26
Government Document (13) 13
Dissertation (12) 12
Newspaper Article (12) 12
Journal / eJournal (4) 4
Book / eBook (3) 3
Web Resource (3) 3
Trade Publication Article (2) 2
Data Set (1) 1
Presentation (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (5167) 5167
index medicus (4702) 4702
ichthyosis (2562) 2562
male (2513) 2513
female (2414) 2414
dermatology (1663) 1663
adult (1317) 1317
ichthyosis - genetics (1062) 1062
child (1016) 1016
ichthyosis - pathology (916) 916
mutation (845) 845
adolescent (804) 804
skin (802) 802
infant, newborn (723) 723
child, preschool (677) 677
syndrome (652) 652
middle aged (645) 645
infant (644) 644
animals (641) 641
skin - pathology (587) 587
genetic aspects (561) 561
ichthyosis - complications (511) 511
ichthyosis - diagnosis (494) 494
genetics & heredity (483) 483
pedigree (469) 469
abridged index medicus (464) 464
research (451) 451
lamellar ichthyosis (449) 449
cell biology (408) 408
mutations (393) 393
phenotype (393) 393
aged (384) 384
ichthyosis - drug therapy (371) 371
gene (369) 369
dermatology & venereal diseases (351) 351
pediatrics (347) 347
mice (346) 346
diagnosis, differential (338) 338
old medline (333) 333
ichthyosis vulgaris (325) 325
x-linked ichthyosis (312) 312
expression (296) 296
biochemistry & molecular biology (294) 294
skin diseases (294) 294
ichthyosis, lamellar (292) 292
ichthyosis - congenital (277) 277
biochemistry (272) 272
genetic disorders (272) 272
ichthyosis - etiology (272) 272
analysis (267) 267
molecular biology (260) 260
pregnancy (260) 260
atopic dermatitis (259) 259
intermediate filament proteins - genetics (257) 257
filaggrin (253) 253
genes (244) 244
diagnosis (241) 241
care and treatment (235) 235
disease (235) 235
ichthyosis, lamellar - genetics (234) 234
biopsy (233) 233
atopic-dermatitis (230) 230
harlequin ichthyosis (224) 224
x chromosome (212) 212
skin - metabolism (211) 211
ichthyosis - metabolism (206) 206
proteins (205) 205
epidermis - metabolism (204) 204
genes, recessive (203) 203
steryl-sulfatase (192) 192
dna mutational analysis (187) 187
epidermis (186) 186
genetics (184) 184
genetic linkage (183) 183
stratum-corneum (183) 183
genetic research (182) 182
reports (180) 180
genotype (179) 179
young adult (177) 177
medical research (176) 176
dermatitis, atopic - genetics (174) 174
eczema (172) 172
differentiation (170) 170
article (168) 168
cells, cultured (167) 167
ichthyosis - therapy (165) 165
gene mutations (164) 164
risk factors (159) 159
base sequence (156) 156
microscopy, electron (156) 156
ichthyosis, x-linked - genetics (155) 155
genetic predisposition to disease (154) 154
consanguinity (152) 152
medicine, experimental (152) 152
psoriasis (150) 150
dermatitis (149) 149
molecular sequence data (148) 148
barrier function (146) 146
of-function mutations (145) 145
epidermis - pathology (143) 143
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (5845) 5845
German (402) 402
French (383) 383
Spanish (112) 112
Russian (97) 97
Italian (96) 96
Japanese (53) 53
Polish (52) 52
Korean (42) 42
Portuguese (34) 34
Turkish (31) 31
Chinese (19) 19
Dutch (19) 19
Czech (14) 14
Danish (9) 9
Swedish (9) 9
Hungarian (6) 6
Romanian (6) 6
Finnish (4) 4
Serbian (4) 4
Norwegian (3) 3
Croatian (2) 2
Afrikaans (1) 1
Azerbaijani (1) 1
Bulgarian (1) 1
Catalan (1) 1
Greek (1) 1
Hebrew (1) 1
Icelandic (1) 1
Persian (1) 1
Ukrainian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal der Deutschen Dermatologischen Gesellschaft, ISSN 1610-0379, 10/2017, Volume 15, Issue 10, p. 1053
Zusammenfassung Ichthyosen sind seltene genetische Hautkrankheiten, die den Kliniker vor mannigfache Herausforderungen stellen, insbesondere in Bezug auf das... 
Ichthyosis
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2013, Volume 8, Issue 10, pp. e75355 - e75355
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2012, Volume 44, Issue 2, pp. 140 - 147
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 1, pp. 152 - 165
Journal Article
Journal Article
Case Report - Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome, 12/2006
A 12-year-old boy born of a nonconsanguineous marriage presented with dry rough skin and photophobia since birth. His growth and developmental milestones were... 
Alopecia, Ichthyosis follicularis, Photophobia
Journal
Journal of Dermatological Science, ISSN 0923-1811, 11/2018, Volume 92, Issue 2, pp. 127 - 133
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161465 - e0161465
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the... 
SPHINGOLIPID METABOLISM | TRANSPORTER ABCA12 | GENE | MULTIDISCIPLINARY SCIENCES | GOLGI-APPARATUS | LAMELLAR GRANULES | EPIDERMAL-KERATINOCYTES | MICE | TERMINAL DIFFERENTIATION | MUTATIONS | PERMEABILITY BARRIER | Exons | Skin - metabolism | Ichthyosis, Lamellar - therapy | ATP-Binding Cassette Transporters - genetics | Base Sequence | Skin Transplantation | Skin - pathology | Disease Models, Animal | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | Ceramides - metabolism | Chromosome Mapping | Permeability | Genes, Recessive | Sequence Analysis, DNA | Phenotype | Animals | Epidermis - ultrastructure | Ichthyosis, Lamellar - genetics | Keratinocytes - metabolism | Models, Biological | Alleles | Skin - ultrastructure | Mice | Mutation | Glucosylceramides - metabolism | Kallikreins - metabolism | Ichthyosis, Lamellar - pathology | Gene mutations | Physiological aspects | Genetic aspects | Skin | Research | Risk factors | Ichthyosis | Neonates | Animal models | Calcium | Transcription | Veterans | Lamellae | Lipids | Defects | Ceramide glucosyltransferase | Metabolites | Proteolysis | Ceramide | Skin diseases | Enzymes | Congenital diseases | Stratum corneum | Dermatology | Intracellular levels | Secretion | Proteolytic enzymes | Kallikrein | Keratinocytes | Cell division | Epidermis | Metabolism | Ribonucleic acid--RNA | Mutants | Medicine | Pathology | Hypotheses | Index Medicus | RNA | Ribonucleic acid
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 926 - 939
Journal Article