X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (299) 299
Publication (31) 31
Book Review (8) 8
Newspaper Article (8) 8
Newsletter (7) 7
Book Chapter (6) 6
Book / eBook (2) 2
Magazine Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (213) 213
albinism (163) 163
index medicus (130) 130
male (94) 94
female (93) 93
oculocutaneous albinism (87) 87
mutation (67) 67
adult (55) 55
animals (54) 54
mutations (46) 46
child (45) 45
albinism, oculocutaneous - genetics (44) 44
dermatology (44) 44
ophthalmology (41) 41
genetics & heredity (38) 38
middle aged (34) 34
hermansky-pudlak syndrome (33) 33
proteins (33) 33
eye diseases (32) 32
phenotype (31) 31
research (31) 31
genetic aspects (29) 29
mice (29) 29
albinism, oculocutaneous - complications (28) 28
adolescent (27) 27
analysis (27) 27
medicine, research & experimental (27) 27
pediatrics (27) 27
albinism, oculocutaneous - diagnosis (26) 26
cell biology (26) 26
child, preschool (26) 26
pulmonary fibrosis (26) 26
tyrosinase (26) 26
article (25) 25
gene (25) 25
hermanski-pudlak syndrome - genetics (25) 25
diagnosis (24) 24
genetics (23) 23
hermansky-pudlak-syndrome (22) 22
melanin (22) 22
pigmentation (22) 22
skin (22) 22
albinism, oculocutaneous - therapy (21) 21
genes (21) 21
medicine (21) 21
melanocytes (21) 21
patients (21) 21
infant (20) 20
membrane proteins - genetics (20) 20
care and treatment (19) 19
skin cancer (19) 19
disease (18) 18
health aspects (18) 18
dna mutational analysis (17) 17
gene mutations (17) 17
biochemistry & molecular biology (16) 16
diagnosis, differential (16) 16
immunodeficiency (16) 16
melanoma (16) 16
sense organs (16) 16
albinism - complications (15) 15
children (15) 15
hermanski-pudlak syndrome - diagnosis (15) 15
identification (15) 15
integumentary system (15) 15
monophenol monooxygenase - genetics (15) 15
p-gene (15) 15
visual acuity (15) 15
expression (14) 14
nystagmus (14) 14
ocular albinism (14) 14
oncology (14) 14
treatment outcome (14) 14
aged (13) 13
case studies (13) 13
chediak-higashi-syndrome (13) 13
genetic structures (13) 13
melanins - biosynthesis (13) 13
melanins - metabolism (13) 13
membrane transport proteins - genetics (13) 13
risk factors (13) 13
surgery (13) 13
albinism, ocular - diagnosis (12) 12
albinism, oculocutaneous - pathology (12) 12
case report (12) 12
hermanski-pudlak syndrome - complications (12) 12
albinism - genetics (11) 11
genomics (11) 11
genotype (11) 11
medical research (11) 11
melanocytes - metabolism (11) 11
mouse (11) 11
physiological aspects (11) 11
research article (11) 11
review (11) 11
tyrosinase gene (11) 11
albinism, oculocutaneous - physiopathology (10) 10
alleles (10) 10
base sequence (10) 10
biotechnology & applied microbiology (10) 10
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (306) 306
German (8) 8
Polish (2) 2
Spanish (2) 2
Afrikaans (1) 1
Japanese (1) 1
Russian (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2007, Volume 2, Issue 1, pp. 43 - 43
Journal Article
Journal Article
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 05/2003, Volume 17, Issue 3, pp. 251 - 256
Journal Article
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 10/2011, Volume 121, Issue 10, pp. 3828 - 3831
Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience... 
MEDICINE, RESEARCH & EXPERIMENTAL | WILD-TYPE | TYPE-4 | TYROSINASE | RETENTION | TYRP1 | ENDOPLASMIC-RETICULUM | MUTATIONS | PROTEINS | P-GENE | MELANOCYTES | Pregnancy | Animals | Albinism, Oculocutaneous - drug therapy | Cyclohexanones - therapeutic use | Eye Color - drug effects | Humans | Female | Nitrobenzoates - therapeutic use | Skin Pigmentation - drug effects
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 10/2011, Volume 121, Issue 10, pp. 3914 - 3923
Journal Article
BMJ case reports, ISSN 1757-790X, 2013, Volume 2013, Issue jan22 1, pp. bcr2012008004 - bcr2012008004
Albinism is a congenital hypopigmentary disorder. Albinism is due to the dysfunction of the melanin-producing cells (melanocytes) resulting in defective... 
Albinism, Oculocutaneous - therapy | Diagnosis, Differential | Prosthodontics - methods | Albinism, Oculocutaneous - diagnosis | Humans | Adult | Female | Dental Prosthesis Design
Journal Article
Korean Journal of Ophthalmology, ISSN 1011-8942, 08/2013, Volume 27, Issue 4, pp. 308 - 310
Journal Article