X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
genetics & heredity (4) 4
female (3) 3
genetics (3) 3
humans (3) 3
index medicus (3) 3
male (3) 3
adult (2) 2
allelomorphism (2) 2
exome (2) 2
gene mutations (2) 2
genes (2) 2
genetic aspects (2) 2
genetic research (2) 2
genomes (2) 2
genomics (2) 2
health aspects (2) 2
physiological aspects (2) 2
research (2) 2
14q32 (1) 1
abnormalities, multiple - genetics (1) 1
abnormalities, multiple - pathology (1) 1
absence of heterozygosity (1) 1
actins - genetics (1) 1
adaptor proteins, signal transducing - genetics (1) 1
adolescent (1) 1
alleles (1) 1
analysis (1) 1
article (1) 1
autosomal recessive inheritance (1) 1
base sequence (1) 1
biology and life sciences (1) 1
biomedicine (1) 1
charcot-marie-tooth (1) 1
charcot-marie-tooth disease - genetics (1) 1
child (1) 1
child, preschool (1) 1
chromosome 14 (1) 1
chromosomes (1) 1
clinical genetics (1) 1
codon, nonsense (1) 1
colon - abnormalities (1) 1
colon - pathology (1) 1
complex genomic rearrangement (1) 1
copy-number (1) 1
craniofacial abnormalities - diagnosis (1) 1
craniofacial abnormalities - genetics (1) 1
deoxyribonucleic acid--dna (1) 1
disease (1) 1
diseases (1) 1
dishevelled proteins (1) 1
dna methylation (1) 1
dna replication (1) 1
drug dosages (1) 1
dup-trp (1) 1
dup-trp/inv-dup (1) 1
duplication (1) 1
dwarfism - diagnosis (1) 1
dwarfism - genetics (1) 1
epigenetic inheritance (1) 1
etiology (1) 1
exons (1) 1
female infant (1) 1
frameshift mutation (1) 1
fusion protein (1) 1
gastroenterology and hepatology (1) 1
gastrointestinal motility disorders (1) 1
gene (1) 1
gene disruption (1) 1
gene dosage (1) 1
gene function (1) 1
gene mapping (1) 1
gene polymorphism (1) 1
genetic disorders (1) 1
genetic testing (1) 1
genetic variation (1) 1
genotype & phenotype (1) 1
heterozygote (1) 1
high-throughput nucleotide sequencing (1) 1
hollow visceral myopathy (1) 1
homozygote (1) 1
human genetics (1) 1
hypertrophic cardiomyopathy (1) 1
imprinting (1) 1
infant, newborn (1) 1
inter-homologous chromosomal template switch (1) 1
interstitial-cells (1) 1
intestinal pseudo-obstruction - genetics (1) 1
intestinal pseudo-obstruction - pathology (1) 1
inv-dup (1) 1
ligases (1) 1
limb deformities, congenital - diagnosis (1) 1
limb deformities, congenital - genetics (1) 1
mechanisms (1) 1
medical colleges (1) 1
medicine (1) 1
medicine and health sciences (1) 1
metabolic diseases (1) 1
mice lacking (1) 1
mmbir (1) 1
molecular medicine (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 3, p. e1004258
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 553 - 561
Journal Article
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.