X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (17) 17
humans (16) 16
genetics & heredity (13) 13
male (13) 13
phenotype (12) 12
mutation (11) 11
female (10) 10
child (9) 9
child, preschool (8) 8
genes (7) 7
intellectual disability (7) 7
biochemistry & molecular biology (6) 6
mutations (5) 5
pedigree (5) 5
abnormalities, multiple - genetics (4) 4
adolescent (4) 4
developmental disabilities - genetics (4) 4
facies (4) 4
gene (4) 4
adult (3) 3
analysis (3) 3
care and treatment (3) 3
dna mutational analysis (3) 3
genetic aspects (3) 3
genetic association studies (3) 3
genetics (3) 3
infant (3) 3
intellectual disability - genetics (3) 3
middle aged (3) 3
molecular sequence data (3) 3
mutation, missense (3) 3
neurodevelopmental disorders (3) 3
pediatrics (3) 3
phenotypes (3) 3
young adult (3) 3
570 life sciences; biology (2) 2
610 medicine & health (2) 2
abnormalities, multiple - diagnosis (2) 2
amino acid sequence (2) 2
array cgh (2) 2
autism spectrum disorders (2) 2
copy number (2) 2
de-novo mutations (2) 2
deletion (2) 2
developmental disabilities - diagnosis (2) 2
disease (2) 2
disorders (2) 2
dna microarrays (2) 2
etiology (2) 2
exons (2) 2
family (2) 2
gene deletion (2) 2
genetic loci (2) 2
genomes (2) 2
haploinsufficiency (2) 2
heart defects, congenital - genetics (2) 2
hereditary diseases (2) 2
identification (2) 2
institute of medical genetics (2) 2
intellectual disabilities (2) 2
intellectual disability - diagnosis (2) 2
life sciences (2) 2
membrane proteins - genetics (2) 2
mental-retardation (2) 2
microcephaly (2) 2
missense mutation (2) 2
models, molecular (2) 2
mosaicism (2) 2
n-terminal acetyltransferase a - chemistry (2) 2
n-terminal acetyltransferase a - genetics (2) 2
n-terminal acetyltransferase e - chemistry (2) 2
n-terminal acetyltransferase e - genetics (2) 2
patients (2) 2
protein conformation (2) 2
research (2) 2
seizures (2) 2
sequence alignment (2) 2
siblings (2) 2
variants (2) 2
1506 (1) 1
18q (1) 1
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (1) 1
abnormalities, multiple - pathology (1) 1
acetylation (1) 1
acetyltransferase (1) 1
acog (1) 1
acrocallosal syndrome (1) 1
acrocallosal syndrome - genetics (1) 1
acrocallosal syndrome - pathology (1) 1
acyltransferases (1) 1
adenosine triphosphatases - genetics (1) 1
age (1) 1
aicardi (1) 1
alcohol (1) 1
alpha-acetyltransferase (1) 1
alternative splicing (1) 1
american-college (1) 1
angioma serpiginosum (1) 1
animal models (1) 1
animals (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 677 - 688
Journal Article
Journal Article
Journal Article
Genetics in medicine, ISSN 1530-0366, 2019, Volume 21, Issue 9, pp. 2043 - 2058
Journal Article
European journal of human genetics : EJHG, ISSN 1476-5438, 2018, Volume 26, Issue 2, pp. 197 - 209
Journal Article
Investigative ophthalmology & visual science, ISSN 1552-5783, 2017, Volume 58, Issue 10, pp. 3840 - 3850
PURPOSE. To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. METHODS. A retrospective multicenter study of... 
Outer retinal tabulation | Phenotype | Retinitis pigmentosa | C2orf71 gene | phenotype | GENE | VISUAL FUNCTION | FAMILIES | outer retinal tubulation | DISEASE | retinitis pigmentosa | OPHTHALMOLOGY | COHORT | PHENOTYPE ASSESSMENT
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 305 - 316
Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations.... 
neurodevelopmental disorder | FBXO11 | intellectual disability | Genetics | Genetics(clinical) | INTELLECTUAL-DISABILITY | GENE | UBIQUITIN LIGASE | OTITIS-MEDIA | PATHWAY | GROWTH | GENETICS & HEREDITY | HUMANS | MUTATIONS | PROMOTES | FAMILY | Physiological aspects | Care and treatment | Genetic aspects | Research | Genetic variation | Mental retardation | Life Sciences | Human genetics | Report
Journal Article
European journal of human genetics : EJHG, ISSN 1476-5438, 2010, Volume 18, Issue 12, pp. 1315 - 1321
Journal Article
SWISS MEDICAL WEEKLY, ISSN 1424-7860, 08/2019, Volume 149, p. w20092
BACKGROUND: Since the advent of high-throughput sequencing technologies, organised germline screening, independent of the personal and family cancer history,... 
MUTATION ANALYSIS | EXOME | Italian | population-based screening | VARIANTS | AMERICAN-COLLEGE | MEDICAL GENETICS | Swiss | BRCA MUTATIONS | INCIDENTAL FINDINGS | MEDICINE, GENERAL & INTERNAL | universal screening | HIGH-RISK | hereditary breast and ovarian cancer (HBOC) | genetic incidentaloma | secondary findings | DNA-REPAIR | CLINICAL-SIGNIFICANCE
Journal Article
Molecular Syndromology, ISSN 1661-8769, 08/2017, Volume 8, Issue 5, pp. 266 - 271
Chromosomal mosaicism, which represents a diagnostic challenge for detection and interpretation, has been described in several genetic conditions. It can... 
Mosaicism | Deletion 18q |