X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (56) 56
humans (52) 52
genetics & heredity (34) 34
female (31) 31
male (25) 25
mutation (20) 20
child (14) 14
pediatrics (14) 14
child, preschool (13) 13
infant (13) 13
genetics (12) 12
infant, newborn (12) 12
gene (11) 11
adult (10) 10
article (10) 10
adolescent (9) 9
genetic aspects (9) 9
phenotype (9) 9
animals (8) 8
chromosome deletion (8) 8
mutations (8) 8
syndrome (8) 8
disease (7) 7
genetic disorders (7) 7
pedigree (7) 7
research (7) 7
analysis (6) 6
biochemistry & molecular biology (6) 6
clinical neurology (6) 6
genetic testing (6) 6
identification (6) 6
neurosciences (6) 6
young adult (6) 6
amino acid sequence (5) 5
developmental disabilities - genetics (5) 5
diagnosis (5) 5
mice (5) 5
middle aged (5) 5
molecular sequence data (5) 5
abnormalities, multiple - genetics (4) 4
amyotrophic-lateral-sclerosis (4) 4
chromosome disorders - genetics (4) 4
copper - metabolism (4) 4
developmental delay (4) 4
gene mutations (4) 4
genetic counseling (4) 4
genetic research (4) 4
human genetics (4) 4
hutterite population (4) 4
hybridization (4) 4
medical genetics (4) 4
mosaicism (4) 4
sequence homology, amino acid (4) 4
ataxia (3) 3
ataxia - genetics (3) 3
biomedicine (3) 3
cardiac & cardiovascular systems (3) 3
chromosome mapping (3) 3
copper (3) 3
degeneration (3) 3
enzymes (3) 3
facies (3) 3
features (3) 3
gene expression (3) 3
gene frequency (3) 3
gene-expression (3) 3
genetic predisposition to disease (3) 3
genetic testing - methods (3) 3
genetics, medical - education (3) 3
genomes (3) 3
genotype (3) 3
genotype & phenotype (3) 3
growth failure (3) 3
hand deformities, congenital - genetics (3) 3
haploinsufficiency (3) 3
homozygote (3) 3
in situ hybridization, fluorescence (3) 3
intellectual disability - genetics (3) 3
mental-retardation (3) 3
metabolism (3) 3
microdeletion (3) 3
neurology (3) 3
patients (3) 3
phenotypes (3) 3
physiological aspects (3) 3
pregnancy (3) 3
protein (3) 3
protein binding (3) 3
region (3) 3
risk factors (3) 3
surgery (3) 3
treatment outcome (3) 3
uniparental disomy (3) 3
abnormalities (2) 2
abnormalities, multiple - pathology (2) 2
abridged index medicus (2) 2
aged (2) 2
aged, 80 and over (2) 2
alleles (2) 2
amyotrophic lateral sclerosis (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


Contemporary Pediatrics, ISSN 8750-0507, 10/2018, Volume 35, Issue 10, pp. 22 - 25
There is also a higher incidence of mental health issues such as anxiety, depression, phobias, and panic attacks among patients who discontinue therapy in the... 
Phenylketonuria | Genetic disorders | Analysis | Chemical properties | Medical screening | Health aspects | Sapropterin dihydrochloride | Enzymes | Pediatrics | Nuclear magnetic resonance--NMR | Liver | Family medical history | Uric acid | Hypoglycemia | Metabolism | Patients | Pulmonary hypertension | Ostomy | Rheumatism | Kidney diseases | Age
Journal Article
Current Protocols in Human Genetics, ISSN 1934-8266, 2014, Volume 80, Issue 80, p. Unit 9.12.
This unit presents an overview of the most commonly used Web-based information resources for clinicians seeking to apply molecular or array-based genetic... 
Genetic counseling | Medical genetics | Genetic testing | Genetic Testing | Genetics, Medical | Humans | High-Throughput Nucleotide Sequencing | Internet | Databases, Nucleic Acid | Genetic Counseling | Information Services
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 181 - 190
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms... 
HUTTERITE POPULATION | COMPLEX | TRANSPORT | MUTANTS | DANON-DISEASE | GENE | GENETICS & HEREDITY | COMPONENTS | LINKAGE ANALYSIS | GOLGI | IDENTIFICATION | Sequence Deletion | Vesicular Transport Proteins - metabolism | Humans | Endoplasmic Reticulum - metabolism | Male | Multiprotein Complexes - genetics | Golgi Apparatus - pathology | Syria | Intellectual Disability - genetics | Exome | Young Adult | Endoplasmic Reticulum - pathology | Multiprotein Complexes - metabolism | Lysosomes - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Adult | Female | Ataxia - genetics | Muscular Dystrophies, Limb-Girdle - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | RNA Splice Sites | Creatine Kinase - blood | Endoplasmic Reticulum - genetics | Movement Disorders - pathology | Vesicular Transport Proteins - genetics | Chromosome Mapping | Muscular Diseases - pathology | Protein Transport | Homozygote | Pedigree | Adolescent | Lysosome-Associated Membrane Glycoproteins - genetics | Protein Binding | Golgi Apparatus - metabolism | Consanguinity | Movement Disorders - genetics | Muscular Diseases - genetics | Lysosomal-Associated Membrane Protein 2 | Golgi Apparatus - genetics | Gene mutations | Physiological aspects | Child development deviations | Muscle diseases | Genetic aspects | Research | Developmental disabilities | Learning disabilities | Genomes | Glycoproteins | Mutation | Motor ability | Index Medicus | Report
Journal Article
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2014, Volume 80, p. 9.12
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 233 - 242
Purpose: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism... 
KMT2D | Kabuki syndrome | hyperinsulinism | Hypoglycemia | KDM6A | MLL2 | DIAGNOSIS | DEFICIENCY | INSULIN | GENE | INFANTS | GENETICS & HEREDITY | MUTATIONS
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 262 - 265
The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leó-Critchlow in the original version of this paper. 
Journal Article
Journal Article
Atherosclerosis, ISSN 0021-9150, 02/2018, Volume 269, pp. 122 - 128
Phytosterolemia is a rare genetic disease caused by mutation of the gene. Our aim was to elucidate the natural history and homeostasis of phytosterolemia. We... 
Homeostasis | Rare disease | Sterol | Sterol regulatory element binding protein-2 | XANTHOMATOSIS | A REDUCTASE-ACTIVITY | CARDIAC & CARDIOVASCULAR SYSTEMS | DISEASE | PLANT STEROLS | SITOSTEROLEMIA | PERIPHERAL VASCULAR DISEASE | CHOLESTEROL-BIOSYNTHESIS | Rare Diseases - genetics | United States - epidemiology | Lipid Metabolism, Inborn Errors - genetics | Prevalence | Rare Diseases - blood | Age Factors | Cholesterol - blood | Humans | Lipid Metabolism, Inborn Errors - drug therapy | Middle Aged | Rare Diseases - drug therapy | Child, Preschool | Infant | Male | Asymptomatic Diseases | Hypercholesterolemia - drug therapy | Young Adult | Canada - epidemiology | Time Factors | Adult | Female | Ezetimibe - therapeutic use | ATP Binding Cassette Transporter, Subfamily G, Member 8 - genetics | Phytosterols - adverse effects | Child | Intestinal Diseases - epidemiology | Hypercholesterolemia - epidemiology | Puberty | Genetic Predisposition to Disease | Hypercholesterolemia - blood | Sitosterols - blood | Lipid Metabolism, Inborn Errors - blood | Risk Factors | Intestinal Diseases - drug therapy | Intestinal Diseases - genetics | Rare Diseases - epidemiology | Treatment Outcome | Biomarkers - blood | Phytosterols - genetics | Phenotype | Anticholesteremic Agents - therapeutic use | Phytosterols - blood | Intestinal Diseases - blood | Adolescent | Lipid Metabolism, Inborn Errors - epidemiology | Hypercholesterolemia - genetics | Mutation | Index Medicus
Journal Article
Brain Pathology, ISSN 1015-6305, 03/2015, Volume 25, Issue 2, pp. 231 - 232
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 57 - 63
Journal Article