|
agenesis of the corpus callosum |
3 |
|
array cgh |
3 |
|
campomelic dysplasia |
3 |
|
elongation factor tu gtp-binding domain containing 2 |
3 |
|
facial dysostosis |
3 |
|
mandibulofacial dysostosis type guion-almeida |
3 |
|
mandibulofacial dysostosis with microcephaly |
3 |
|
microdeletion |
3 |
|
osteoblast differentiation |
3 |
|
prenatal diagnosis |
3 |
|
skeletal disorders |
3 |
|
sox9 |
3 |
|
wnt and hh signaling |
3 |
|
adolescent |
2 |
|
amino acid sequence |
2 |
|
child |
2 |
|
clinical genetics and dysmorphology |
2 |
|
craniofacial development |
2 |
|
dna mutational analysis |
2 |
|
female |
2 |
|
humans |
2 |
|
intellectual disability |
2 |
|
kw029 - clinical history |
2 |
|
kw046 - dysmorphology |
2 |
|
kw158 - skeletal system |
2 |
|
male |
2 |
|
mctt syndrome |
2 |
|
mn1 |
2 |
|
molecular sequence data |
2 |
|
mutation |
2 |
|
phenotype |
2 |
|
rhombencephalosynapsis |
2 |
|
sequence alignment |
2 |
|
1-2 syndactyly |
1 |
|
22q11.2 |
1 |
|
abdomen - ultrasonography |
1 |
|
abnormalities, multiple - diagnosis - genetics - pathology |
1 |
|
abnormalities, multiple - genetics |
1 |
|
abnormalities, multiple - genetics - metabolism |
1 |
|
abnormalities, multiple - genetics - pathology |
1 |
|
abnormalities, multiple - pathology |
1 |
|
acid phosphatase 2 |
1 |
|
adenosine triphosphatases - genetics |
1 |
|
adrenal glands - abnormalities |
1 |
|
adrenal hypoplasia congenita |
1 |
|
adrenal insufficiency |
1 |
|
adrenal insufficiency - congenital - diagnosis - genetics |
1 |
|
adult |
1 |
|
alpha-fetoproteins - analysis |
1 |
|
amino acid substitution |
1 |
|
animals |
1 |
|
anion transport proteins |
1 |
|
ascertainment |
1 |
|
autosomal recessive |
1 |
|
axial mesodermal dysplasia complex |
1 |
|
base sequence |
1 |
|
beckwith-wiedemann syndrome - complications - genetics |
1 |
|
birth defects |
1 |
|
body height - genetics |
1 |
|
bone diseases, developmental - genetics - radiography - ultrasonography |
1 |
|
bone mineral density |
1 |
|
brain diseases, metabolic, inborn - genetics - immunology |
1 |
|
brain neoplasms - diagnosis - genetics - therapy |
1 |
|
cancer risk |
1 |
|
cantu syndrome |
1 |
|
cardiac hypertrophy |
1 |
|
cardiomegaly - genetics - metabolism - pathology |
1 |
|
carrier proteins - genetics |
1 |
|
cataract - complications |
1 |
|
cell line, tumor |
1 |
|
cells, cultured |
1 |
|
cerebellar fusion |
1 |
|
cervical vertebrae - abnormalities |
1 |
|
chi-square distribution |
1 |
|
child, preschool |
1 |
|
chondrocytes - metabolism |
1 |
|
choristoma - congenital |
1 |
|
chromosomal |
1 |
|
chromosome aberrations |
1 |
|
chromosome banding |
1 |
|
chromosome disorders - genetics - pathology |
1 |
|
chromosome inversion |
1 |
|
chromosome mapping |
1 |
|
chromosomes, human, pair 1 - genetics |
1 |
|
chromosomes, human, pair 13 - genetics |
1 |
|
chromosomes, human, pair 15 - genetics |
1 |
|
chromosomes, human, pair 17 |
1 |
|
chromosomes, human, pair 22 - genetics |
1 |
|
cleft lip - complications |
1 |
|
cleft lip - epidemiology |
1 |
|
cleft lip and palate |
1 |
|
cleft palate - complications |
1 |
|
cleft palate - epidemiology |
1 |
|
clefts |
1 |
|
codon, nonsense |
1 |
|
cohort studies |
1 |
|
colitis |
1 |
|
colitis - genetics - pathology |
1 |
|
colorectal neoplasms, hereditary nonpolyposis - diagnosis - genetics - therapy |
1 |
|
comparative genomic hybridization |
1 |
|
congenital abnormalities - epidemiology |
1 |
|
congenital heart disease |
1 |
|
consanguinity |
1 |
|
copy number variation |
1 |
|
craniofacial abnormalities |
1 |
|
craniofacial abnormalities - genetics |
1 |
|
craniosynostoses - genetics - metabolism - pathology |
1 |
|
craniosynostosis |
1 |
|
cytogenetic analysis |
1 |
|
cytomegalic adrenal cells |
1 |
|
developmental delay |
1 |
|
developmental disabilities - genetics - metabolism - pathology |
1 |
|
dna copy number variations - genetics |
1 |
|
dna mismatch repair |
1 |
|
dna repair enzymes - genetics |
1 |
|
dna-binding proteins - genetics |
1 |
|
dwarfism - genetics |
1 |
|
ectodermal dysplasia - genetics - metabolism |
1 |
|
enhancer elements, genetic |
1 |
|
exons |
1 |
|
family |
1 |
|
fatal outcome |
1 |
|
femur - radiography |
1 |
|
fetus - abnormalities |
1 |
|
finger phalanges - abnormalities - radiography |
1 |
|
flanking sequence |
1 |
|
fluorescent antibody technique |
1 |
|
follow-up studies |
1 |
|
gene deletion |
1 |
|
gene dosage |
1 |
|
gene duplication |
1 |
|
gene expression profiling |
1 |
|
gene expression regulation, developmental |
1 |
|
genes, recessive |
1 |
|
genes, recessive - genetics |
1 |
|
genes, x-linked |
1 |
|
genetic association studies |
1 |
|
genetic heterogeneity |
1 |
|
genetic variation |
1 |
|
genome, human |
1 |
|
genotype |
1 |
|
gestational age |
1 |
|
glioblastoma - diagnosis - genetics - therapy |
1 |
|
glypicans - genetics |
1 |
|
goldenhar syndrome |
1 |
|
goldenhar syndrome - genetics |
1 |
|
guideline |
1 |
|
hepatoblastoma |
1 |
|
hepatoblastoma - diagnosis - etiology |
1 |
|
heterotopic olivary tissue |
1 |
|
homeodomain proteins - genetics |
1 |
|
homozygote |
1 |
|
hypercholesterolemia |
1 |
|
hyperplasia - genetics |
1 |
|
hypertrichosis |
1 |
|
hypothyroidism |
1 |
|
hypothyroidism - genetics - metabolism - pathology |
1 |
|
immunity, innate |
1 |
|
immunohistochemistry |
1 |
|
in situ hybridization, fluorescence |
1 |
|
infant |
1 |
|
infant, newborn |
1 |
|
infant, premature |
1 |
|
infant, premature, diseases - genetics - metabolism - pathology |
1 |
|
intellectual disability - complications |
1 |
|
intellectual disability - diagnosis - genetics |
1 |
|
interviews as topic |
1 |
|
karyotyping |
1 |
|
keratinocytes - metabolism |
1 |
|
kidney - abnormalities |
1 |
|
kidney - pathology |
1 |
|
limb deformities, congenital - complications |
1 |
|
long range transcriptional enhancers |
1 |
|
loss of heterozygosity |
1 |
|
magnetic resonance imaging - methods |
1 |
|
membrane proteins - chemistry - genetics - metabolism |
1 |
|
membrane transport proteins |
1 |
|
metacarpal bones - abnormalities - radiography |
1 |
|
mice |
1 |
|
microarray |
1 |
|
microarray analysis |
1 |
|
microduplication |
1 |
|
mismatch repair genes |
1 |
|
monomeric gtp-binding proteins - genetics - immunology |
1 |
|
monosomy - genetics - pathology |
1 |
|
monosomy 1p36 |
1 |
|
mouth abnormalities - embryology - genetics - metabolism |
1 |
|
mullerian abnormalities |
1 |
|
mullerian defects |
1 |
|
mullerian ducts - abnormalities |
1 |
|
multicystic dysplastic kidney |
1 |
|
multicystic dysplastic kidney - complications |
1 |
|
multicystic dysplastic kidneys |
1 |
|
murcs |
1 |
|
musculoskeletal abnormalities - genetics |
1 |
|
mutation - genetics |
1 |
|
mutation analysis |
1 |
|
mutation, missense |
1 |
|
neoplasms, multiple primary - diagnosis - genetics - therapy |
1 |
|
obesity |
1 |
|
obesity - genetics - metabolism - pathology |
1 |
|
oculo-auriculo-vertebral spectrum |
1 |
|
ofd1 |
1 |
|
ofdi |
1 |
|
oligonucleotide array sequence analysis |
1 |
|
olivary nucleus - pathology |
1 |
|
orofaciodigital syndromes - genetics - pathology |
1 |
|
osteogenesis - physiology |
1 |
|
overgrowth |
1 |
|
paracentric inversion |
1 |
|
parietal alopecia |
1 |
|
pediatric cancer syndrome |
1 |
|
pedigree |
1 |
|
pms2 homozygosity |
1 |
|
polymicrogyria |
1 |
|
polymorphism, single nucleotide - genetics |
1 |
|
pregnancy |
1 |
|
prenatal magnetic resonance imaging |
1 |
|
primary ciliary dysfunction |
1 |
|
protein biosynthesis |
1 |
|
proteins - genetics |
1 |
|
radiography, thoracic |
1 |
|
recessive omodysplasia |
1 |
|
recurrent fractures |
1 |
|
registries |
1 |
|
registry |
1 |
|
repetitive sequences, nucleic acid - genetics |
1 |
|
ribs - abnormalities - radiography |
1 |
|
risk |
1 |
|
risk factors |
1 |
|
sequence deletion |
1 |
|
shox deletion |
1 |
|
shox duplication |
1 |
|
siblings |
1 |
|
skeletal dysplasia |
1 |
|
skull - radiography |
1 |
|
sox9 transcription factor - chemistry - genetics - physiology |
1 |
|
spinal fusion |
1 |
|
spine - radiography |
1 |
|
syndactyly - complications |
1 |
|
syndrome |
1 |
|
t-box domain proteins - genetics |
1 |
|
tall stature |
1 |
|
testis - embryology - metabolism |
1 |
|
thymic hypoplasia |
1 |
|
thymus gland - abnormalities |
1 |
|
transcription, genetic |
1 |
|
transcriptional activation |
1 |
|
type ii diabetes |
1 |
|
ultrasonography, prenatal |
1 |
|
victoria - epidemiology |
1 |
|
wilms tumor - diagnosis - etiology |
1 |
|
wilms tumour |
1 |
|
x-linked dominant male lethal |
1 |
|
young adult |
1 |
