X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (108) 108
female (75) 75
index medicus (73) 73
male (56) 56
mutation (52) 52
genetics & heredity (41) 41
adult (34) 34
genetic aspects (29) 29
jews - genetics (27) 27
pedigree (23) 23
middle aged (22) 22
research (20) 20
breast neoplasms - genetics (19) 19
gene mutations (19) 19
genetics (19) 19
breast cancer (18) 18
mutations (18) 18
pregnancy (18) 18
gene (17) 17
genes (17) 17
genetic predisposition to disease (17) 17
heterozygote (17) 17
infant, newborn (17) 17
abridged index medicus (16) 16
obstetrics & gynecology (16) 16
risk (16) 16
risk factors (15) 15
aged (14) 14
alleles (14) 14
animals (14) 14
biochemistry (14) 14
cancer (14) 14
ovarian cancer (14) 14
ovarian neoplasms - genetics (14) 14
health aspects (13) 13
israel (13) 13
medicine, general & internal (13) 13
adolescent (12) 12
agriculture (12) 12
animal husbandry (12) 12
beer (12) 12
breast neoplasms - epidemiology (12) 12
care of birds, fishes, insects (12) 12
chemistry (12) 12
compositions or test papers therefor (12) 12
compositions thereof (12) 12
condition-responsive control in microbiological orenzymological processes (12) 12
culture media (12) 12
diagnosis (12) 12
enzymology (12) 12
fermentation or enzyme-using processes to synthesise a desiredchemical compound or composition or to separate optical isomersfrom a racemic mixture (12) 12
fishing (12) 12
forestry (12) 12
genes, brca1 (12) 12
homozygote (12) 12
human necessities (12) 12
hunting (12) 12
hygiene (12) 12
measuring or testing processes involving enzymes, nucleicacids or microorganisms (12) 12
medical or veterinary science (12) 12
metallurgy (12) 12
mice (12) 12
microbiology (12) 12
microorganisms or enzymes (12) 12
mutation or genetic engineering (12) 12
new breeds of animals (12) 12
organic chemistry (12) 12
peptides (12) 12
preparations for medical, dental, or toilet purposes (12) 12
processes of preparing such compositions (12) 12
propagating, preserving or maintaining microorganisms (12) 12
rearing or breeding animals, not otherwise provided for (12) 12
specific therapeutic activity of chemical compounds ormedicinal preparations (12) 12
spirits (12) 12
trapping (12) 12
vinegar (12) 12
wine (12) 12
women (12) 12
dna mutational analysis (11) 11
genes, brca2 (11) 11
genetic testing (11) 11
medical genetics (11) 11
multidisciplinary sciences (11) 11
preimplantation genetic diagnosis (11) 11
proteins (11) 11
article (10) 10
brca1 (10) 10
brca2 protein (10) 10
dna (10) 10
gene frequency (10) 10
genetic testing - methods (10) 10
genomics (10) 10
ovarian-cancer (10) 10
prevalence (10) 10
analysis (9) 9
base sequence (9) 9
clinical neurology (9) 9
cohort studies (9) 9
disease (9) 9
expression (9) 9
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Breast Cancer Research and Treatment, ISSN 0167-6806, 11/2019, Volume 178, Issue 1, pp. 231 - 237
While the spectrum of germline mutations in BRCA1/2 genes in the Israeli Jewish population has been extensively studied, there is a paucity of data pertaining... 
Medicine & Public Health | Recurrent mutations | Oncology | Breast cancer | BRCA1 | Israeli Arabs | BRCA2 | Ovarian cancer | Cancer patients | Care and treatment | Algorithms | Gene mutations | Genetic aspects | Disease susceptibility | Health aspects | Risk factors
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 08/2019, Volume 27, Issue 8, pp. 1315 - 1319
The transforming growth factor-beta (TGF beta) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant... 
PROGRAMMED CELL-DEATH | GARP | DEFECTS | RETINA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Signal transduction | Retinopathy | Transforming growth factor-b | Retina | Cell surface | Immunity (cell-mediated) | Cleft lip/palate
Journal Article
PLOS GENETICS, ISSN 1553-7404, 07/2019, Volume 15, Issue 7, p. e1008082
Despite intensive study, most of the specific genetic factors that contribute to variation in human height remain undiscovered. We conducted a family-based... 
GENOME SCAN | POPULATION | VARIANTS | GENETICS & HEREDITY | ARCHITECTURE | BODY-MASS INDEX | LINKAGE ANALYSIS | SHORT STATURE | LOCUS | ADULT HEIGHT | HERITABILITY | Stature | Physiological aspects | Family | Genetic aspects | Jews | Body height | Insects | Genetic analysis | Population | Genetics | Genomes | Longitudinal studies | Genetic factors | Siblings
Journal Article
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY, ISSN 2155-384X, 07/2019, Volume 10, Issue 7, p. e00054
OBJECTIVES: Loss-of-function mutations of BMPR1A cause juvenile polyposis syndrome (JPS), but large genomic deletions in BMPR1A are rare, reported in few... 
SMAD4 | GENOTYPE | PHENOTYPE | PTEN | RISK | GASTROENTEROLOGY & HEPATOLOGY | CANCER
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 6, pp. 1390 - 1399
To develop an economical, user-friendly, and accurate all-in-one next-generation sequencing (NGS)-based workflow for single-cell gene variant detection... 
PGT | low coverage sequencing | combined molecular PGD and comprehensive chromosome screening | rapid diagnostic method
Journal Article
The New England journal of medicine, 03/2019, Volume 380, Issue 11, p. 1087
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2019, Volume 380, Issue 11, pp. 1086 - 1087
To the Editor: Weinberg-Shukron et al. (Sept. 13 issue) 1 report the discovery of biallelic BRCA2 truncating mutations in patients with ovarian dysgenesis.... 
MEDICINE, GENERAL & INTERNAL | FAILURE | BRCA2 protein | Amenorrhea | Genomes | Solid tumors | Mutation
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2018, Volume 3, Issue 1, pp. 7 - 8
Clinical testing of BRCA1 and BRCA2 began over 20 years ago. With the expiration and overturning of the BRCA patents, limitations on which laboratories could... 
VARIANTS | GENETICS & HEREDITY | Laboratories
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 11265 - 11
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 15941 - 9
Prenatal genetic testing is not generally applicable to the very early stages of pregnancy (prior to week 8 gestation), a time period that is crucial to... 
FETAL FRACTION | MUTATIONS | MATERNAL PLASMA | MULTIDISCIPLINARY SCIENCES | CELL-FREE DNA | PRENATAL-DIAGNOSIS | Pregnancy | Next-generation sequencing | Disease transmission | Typing | Fetuses | Amniotic fluid | Alleles | Cystic fibrosis | Diagnosis | Gestation | Genetic screening
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2018, Volume 379, Issue 11, pp. 1042 - 1049
Journal Article
Journal of medical genetics, ISSN 0022-2593, 05/2018
To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation,... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2018, Volume 55, Issue 9, p. 599
ObjectiveTo identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental... 
Journal Article