X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (45) 45
index medicus (42) 42
female (32) 32
genetics & heredity (25) 25
male (25) 25
mutation (18) 18
adult (15) 15
diagnosis (13) 13
child (11) 11
infant (11) 11
mutations (11) 11
pedigree (11) 11
young adult (11) 11
child, preschool (10) 10
genetic aspects (10) 10
hematology (10) 10
adolescent (9) 9
analysis (9) 9
infant, newborn (9) 9
middle aged (9) 9
pediatrics (9) 9
enzyme replacement therapy (8) 8
phenotype (8) 8
gene mutations (7) 7
genes (7) 7
genetic predisposition to disease (7) 7
oncology (7) 7
patients (7) 7
animals (6) 6
genetics (6) 6
glucocerebrosidase (6) 6
proteins (6) 6
consanguinity (5) 5
enzymes (5) 5
european consortium care (5) 5
gaucher disease (5) 5
gaucher disease - drug therapy (5) 5
genetic testing (5) 5
genetic-variation (5) 5
glucosylceramidase - genetics (5) 5
identification (5) 5
israel (5) 5
jews - genetics (5) 5
life sciences (5) 5
mice (5) 5
microsatellite instability (5) 5
obstetrics & gynecology (5) 5
phenotypes (5) 5
pregnancy (5) 5
abridged index medicus (4) 4
article (4) 4
biochemistry & molecular biology (4) 4
colorectal neoplasms, hereditary nonpolyposis - genetics (4) 4
colorectal-cancer (4) 4
dna-binding proteins - genetics (4) 4
experience (4) 4
family (4) 4
gaucher disease - diagnosis (4) 4
gaucher disease - genetics (4) 4
genetic association studies (4) 4
genetic counseling (4) 4
genomes (4) 4
genotype & phenotype (4) 4
germ-line mutation (4) 4
health aspects (4) 4
heredity (4) 4
heterozygote (4) 4
homozygote (4) 4
human genetics (4) 4
imiglucerase (4) 4
lynch syndrome (4) 4
medicine, general & internal (4) 4
nuclear proteins - genetics (4) 4
protein (4) 4
research (4) 4
retrospective studies (4) 4
risk (4) 4
variants (4) 4
adaptor proteins, signal transducing - genetics (3) 3
aged (3) 3
amino acid sequence (3) 3
anomalies (3) 3
ashkenazi jews (3) 3
association (3) 3
autolysosome (3) 3
autophagosome (3) 3
biomedicine (3) 3
cardiomyopathy (3) 3
cell biology (3) 3
chaperone-mediated autophagy (3) 3
colorectal cancer (3) 3
colorectal neoplasms - genetics (3) 3
congenital, hereditary, and neonatal diseases and abnormalities (3) 3
deoxyribonucleic acid--dna (3) 3
developmental disabilities - genetics (3) 3
disease progression (3) 3
diseases (3) 3
dna mutational analysis (3) 3
enzyme replacement therapy - adverse effects (3) 3
fatal outcome (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 14
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of... 
Pathogens | Charging | Aminoacylation | tRNA | Cardiomyopathy | Disorders | Amino acids | Homology | Protein biosynthesis | Patients | Defects | Proteins | Pathogenicity | Mitochondria | Protein synthesis | Fibroblasts | Electron transport | Glutamine
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 2015, Volume 31, Issue 7, pp. 944 - 944
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, p. 1172
  Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA)... 
Body fluids | Genotype & phenotype | Neurotransmitters | Amino acids | Birth defects | Neurological disorders
Journal Article
Familial Cancer, ISSN 1389-9600, 1/2018, Volume 17, Issue 1, pp. 79 - 86
Journal Article
Rambam Maimonides medical journal, ISSN 2076-9172, 07/2018, Volume 9, Issue 3, p. e0018
The growing availability of next-generation sequencing technologies has revolutionized medical genetics, facilitating discovery of causative genes in numerous... 
rare genetic disease | Consanguinity | whole-exome sequencing | personalized medicine
Journal Article
The New England journal of medicine, 10/2017, Volume 377, Issue 15, p. 1500
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S41 - S41
Journal Article
Pediatric endocrinology reviews : PER, ISSN 1565-4753, 2014, Volume 12, p. 71
Journal Article
Journal Article
Journal of Obstetrics and Gynaecology Research, ISSN 1341-8076, 04/2014, Volume 40, Issue 4, pp. 968 - 975
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2017, Volume 377, Issue 15, pp. 1499 - 1500
To the Editor: Ozen et al. (July 6 issue) 1 describe 11 study participants with loss-of-function variants in CD55 and complement hyperactivation, angiopathic... 
MEDICINE, GENERAL & INTERNAL | DECAY-ACCELERATING FACTOR | COMPLEMENT | Protein-Losing Enteropathies | Fontan Procedure | Humans
Journal Article
Journal Article
Pediatric Research, ISSN 0031-3998, 04/2018, Volume 83, Issue 4, pp. 825 - 828
BackgroundThe objective of our study was to examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary... 
Pregnancy | Prenatal development | Kidneys | Developmental biology | Chromosomes | Fetuses
Journal Article
Cell, ISSN 0092-8674, 2010, Volume 140, Issue 1, pp. 74 - 87
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 02/2018, Volume 68, pp. 115 - 116
Heterozygote (glucosylceramidase beta) mutations increase the risk of Parkinson's disease (PD). Data based on the measured frequencies of mutated alleles in... 
Parkinson's disease | Gaucher disease | PARKINSON-DISEASE | HEMATOLOGY | Jewish schools | Medical colleges | Neurosciences | Genetic aspects | Gene mutations
Journal Article