X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (23) 23
female (16) 16
index medicus (15) 15
male (15) 15
genetics & heredity (10) 10
infant (10) 10
child, preschool (9) 9
animals (8) 8
article (8) 8
infant, newborn (7) 7
adult (6) 6
child (6) 6
genetic aspects (6) 6
phenotype (6) 6
molecular sequence data (5) 5
base sequence (4) 4
biochemistry & molecular biology (4) 4
gene (4) 4
mice (4) 4
mutation (4) 4
pedigree (4) 4
sensitivity and specificity (4) 4
young adult (4) 4
adolescent (3) 3
biology (3) 3
brain - pathology (3) 3
case report (3) 3
cell biology (3) 3
children (3) 3
coloboma (3) 3
differentiation (3) 3
expression (3) 3
face - pathology (3) 3
family (3) 3
fatal outcome (3) 3
genes, reporter (3) 3
identification (3) 3
medicine (3) 3
mouse (3) 3
pediatrics (3) 3
tretinoin - pharmacology (3) 3
abnormalities (2) 2
abnormalities, multiple - genetics (2) 2
abridged index medicus (2) 2
allelomorphism (2) 2
alpha (2) 2
amino acid sequence (2) 2
birth weight (2) 2
brain (2) 2
brain - abnormalities (2) 2
causes of (2) 2
cell line (2) 2
cells (2) 2
chromosome deletion (2) 2
chromosome mapping (2) 2
classic metaphyseal lesions (2) 2
classification (2) 2
clavicular bone hypoplasia (2) 2
clinical neurology (2) 2
coloboma - genetics (2) 2
computer simulation (2) 2
cranial bone aplasia (2) 2
databases, genetic (2) 2
deletion (2) 2
disease (2) 2
diseases (2) 2
distal phalangeal hypoplasia (2) 2
down syndrome - diagnosis (2) 2
down syndrome - pathology (2) 2
embryonic structures (2) 2
endocrinology & metabolism (2) 2
eye diseases (2) 2
face - abnormalities (2) 2
facies (2) 2
gene mutations (2) 2
genes (2) 2
genes, dominant (2) 2
genetic association studies (2) 2
genetic disorders (2) 2
genetic research (2) 2
health aspects (2) 2
hierarchical constrained local model (2) 2
independent component analysis (2) 2
liver-transplantation (2) 2
luciferases - metabolism (2) 2
magnetic resonance imaging (2) 2
management (2) 2
metabolism (2) 2
metabolism, inborn errors - diagnosis (2) 2
metabolism, inborn errors - therapy (2) 2
microphthalmos (2) 2
models, statistical (2) 2
mutations (2) 2
myofibromatosis - congenital (2) 2
myofibromatosis - genetics (2) 2
non-accidental trauma (2) 2
ophthalmology (2) 2
osteopetrosis (2) 2
patient (2) 2
pattern recognition, automated - methods (2) 2
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, p. 1388
  Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies;... 
Deafness | Rodents | Homeostasis | Mutation
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e28 - e28
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, p. 1001
  Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle,... 
Genetic disorders | Medical treatment | Genes | Mutation | Tumors
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue 1, pp. 237 - 240
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with... 
Non-ketotic hyperglycinemia | Propionic acidemia
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 457 - 466
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, p. 1388
Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies;... 
Allelomorphism | Osteopetrosis | Microphthalmos | Gene mutations | Coloboma | Causes of | Genetic aspects | Health aspects
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2013, Volume 161, Issue 10, pp. 2420 - 2430
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1833 - 1852
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2016, Volume 170, Issue 4, pp. 967 - 977
Journal Article
Pediatrics, ISSN 0031-4005, 12/2008, Volume 122, Issue 6, pp. 1191 - 1195
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 03/2014, Volume 132, Issue 3, p. 265
  Monitoring young children with optic pathway gliomas (OPGs) for visual deterioration can be difficult owing to age-related noncompliance. Optical coherence... 
Pediatrics | Tomography | Eye diseases | Ophthalmology | Tumors
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2008, Volume 146A, Issue 13, pp. 1637 - 1654
Journal Article