X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (90) 90
index medicus (70) 70
genetics & heredity (59) 59
male (59) 59
female (56) 56
mutation (52) 52
child (40) 40
genetic aspects (34) 34
child, preschool (31) 31
phenotype (30) 30
infant (25) 25
adolescent (23) 23
research (20) 20
turkey (19) 19
dna mutational analysis (18) 18
pediatrics (18) 18
pedigree (18) 18
adult (17) 17
article (17) 17
infant, newborn (17) 17
gene (15) 15
abnormalities, multiple - genetics (14) 14
gene mutations (14) 14
mutations (14) 14
genes (13) 13
genetics (13) 13
genotype (13) 13
homozygote (13) 13
consanguinity (12) 12
diagnosis (12) 12
magnetic resonance imaging (12) 12
syndrome (12) 12
clinical neurology (11) 11
proteins (11) 11
radiography (11) 11
dysplasia (10) 10
exome (10) 10
genetic research (10) 10
molecular sequence data (10) 10
health aspects (9) 9
osteochondrodysplasias - genetics (9) 9
risk factors (9) 9
animals (8) 8
brain - pathology (8) 8
exons (8) 8
genetic association studies (8) 8
genetic disorders (8) 8
medicine, research & experimental (8) 8
mutation - genetics (8) 8
mutation, missense (8) 8
abnormalities, multiple - pathology (7) 7
analysis (7) 7
base sequence (7) 7
brain (7) 7
care and treatment (7) 7
craniofacial abnormalities - genetics (7) 7
disease (7) 7
genes, recessive (7) 7
intellectual disability - genetics (7) 7
physiological aspects (7) 7
young adult (7) 7
alleles (6) 6
amino acid sequence (6) 6
biochemistry & molecular biology (6) 6
case studies (6) 6
disorders (6) 6
dwarfism - genetics (6) 6
endocrinology & metabolism (6) 6
expression (6) 6
facies (6) 6
identification (6) 6
medical colleges (6) 6
medical genetics (6) 6
mice (6) 6
protein (6) 6
siblings (6) 6
abridged index medicus (5) 5
cohort studies (5) 5
development and progression (5) 5
diagnosis, differential (5) 5
enzymes (5) 5
exome sequencing (5) 5
family (5) 5
gene expression (5) 5
genomes (5) 5
genotype & phenotype (5) 5
geosciences, multidisciplinary (5) 5
hand deformities, congenital - genetics (5) 5
heterozygote (5) 5
human genetics (5) 5
joint instability - genetics (5) 5
neurology (5) 5
phenotypes (5) 5
pregnancy (5) 5
abnormalities (4) 4
abnormalities, multiple - diagnosis (4) 4
active tectonics (4) 4
biosynthesis (4) 4
biotechnology & applied microbiology (4) 4
classification (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature, ISSN 0028-0836, 09/2010, Volume 467, Issue 7312, pp. 207 - 210
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 23 - 26
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 08/2016, Volume 31, Issue 8, pp. 1577 - 1585
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2011, Volume 43, Issue 6, pp. 590 - 594
Journal Article
Journal Article
03/2013
Objective: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal... 
Maternal UPD7 | Silver–Russell Syndrome | Intrauterine Growth Retardation | Microsatellite Markers
Web Resource
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 115 - 124
MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is... 
rib anomalies | human genetics | exome sequencing | scoliosis | genome sequencing | vertebral anomalies | ophthalmaplegia | myogenesis | extraocular muscle | MYF5 | PROTEIN | MYOD | GENETICS & HEREDITY | BASIC DOMAIN | DISORDERS | SPECIFICATION | EXPRESSION | BINDING | Gene mutations | Scoliosis | Physiological aspects | Genetic aspects | Research | Risk factors | Myogenesis | Report
Journal Article
Molecular Syndromology, ISSN 1661-8769, 05/2018, Volume 9, Issue 3, pp. 134 - 140
Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple... 
COL2A1 | Unequal limb length | Progressive scoliosis | Dysspondyloenchondromatosis | Original
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3087 - 15
Journal Article