X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (296) 296
humans (292) 292
genetics & heredity (197) 197
female (168) 168
male (145) 145
base sequence (70) 70
molecular sequence data (62) 62
chromosome mapping (59) 59
adult (57) 57
in situ hybridization, fluorescence (53) 53
pedigree (52) 52
abnormalities, multiple - genetics (51) 51
child (48) 48
syndrome (48) 48
child, preschool (46) 46
karyotyping (45) 45
polymerase chain reaction (44) 44
mutation (41) 41
phenotype (41) 41
animals (39) 39
gene (39) 39
genomic imprinting (36) 36
infant (35) 35
japan (34) 34
pregnancy (33) 33
dna mutational analysis (32) 32
genetic aspects (32) 32
chromosome deletion (31) 31
dna (30) 30
genes (30) 30
dna - genetics (29) 29
infant, newborn (29) 29
intellectual disability - genetics (29) 29
adolescent (28) 28
alleles (27) 27
expression (27) 27
gene expression (27) 27
human genetics (27) 27
translocation, genetic (27) 27
chromosome banding (26) 26
genotype (26) 26
cloning, molecular (25) 25
biochemistry & molecular biology (24) 24
mice (24) 24
amino acid sequence (23) 23
research (23) 23
biomedicine (22) 22
molecular medicine (22) 22
chromosome aberrations (21) 21
deletion (21) 21
genetic markers (21) 21
genetic research (21) 21
locus (20) 20
polymorphism, restriction fragment length (20) 20
dna methylation (19) 19
microsatellite repeats (19) 19
nuclear proteins - genetics (19) 19
polymorphism, single nucleotide (19) 19
beer (18) 18
biochemistry (18) 18
chemistry (18) 18
compositions or test papers therefor (18) 18
condition-responsive control in microbiological orenzymological processes (18) 18
enzymology (18) 18
genetics (18) 18
haplotypes (18) 18
man (18) 18
measuring or testing processes involving enzymes, nucleicacids or microorganisms (18) 18
metallurgy (18) 18
microbiology (18) 18
mutation or genetic engineering (18) 18
polymorphism (18) 18
processes of preparing such compositions (18) 18
spirits (18) 18
vinegar (18) 18
wine (18) 18
compositions thereof (17) 17
culture media (17) 17
dna-binding proteins - genetics (17) 17
gene frequency (17) 17
gene mutations (17) 17
microorganisms or enzymes (17) 17
organic chemistry (17) 17
propagating, preserving or maintaining microorganisms (17) 17
region (17) 17
cloning (16) 16
peptides (16) 16
polymorphism, genetic (16) 16
chromosomes, human, pair 15 (15) 15
gene deletion (15) 15
genetic linkage (15) 15
prader-willi syndrome (15) 15
sequence deletion (15) 15
analysis (14) 14
cell biology (14) 14
diagnosis (14) 14
exons (14) 14
linkage analysis (14) 14
mouse (14) 14
blotting, southern (13) 13
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (452) 452
French (9) 9
Japanese (9) 9
German (6) 6
Chinese (3) 3
Korean (1) 1
Norwegian (1) 1
Portuguese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2011, Volume 108, Issue 36, pp. 14914 - 14919
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2019, Volume 56, Issue 2, pp. 89 - 95
Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the... 
Kdm6a | Kmt2d | kabuki syndrome | kabuki make-up syndrome | consensus diagnostic criteria | KMT2D | MAKE-UP-SYNDROME | MUTATIONS | EARS | GENETICS & HEREDITY | KDM6A | Genotype & phenotype | Eyelid | Congenital defects | Intellectual disabilities | Genes | DNA methylation | Diagnosis | Mutation | Genetic screening
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2234 - 2243
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 11/1999, Volume 274, Issue 48, pp. 33835 - 33838
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 30 - 41
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2006, Volume 51, Issue 6, pp. 503 - 504
Journal Article