X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (49) 49
humans (47) 47
genetics & heredity (28) 28
female (20) 20
male (17) 17
child (12) 12
gene (11) 11
animals (10) 10
cytogenetics (10) 10
adolescent (9) 9
mutations (9) 9
phenotype (9) 9
chromosome deletion (8) 8
comparative genomic hybridization (8) 8
gene deletion (8) 8
mice (8) 8
oncology (8) 8
surgery (8) 8
adult (7) 7
diagnosis (7) 7
in situ hybridization, fluorescence (7) 7
mutation (7) 7
cancer (6) 6
child, preschool (6) 6
expression (6) 6
genomics (6) 6
hematology (6) 6
infant (6) 6
syndrome (6) 6
translocation, genetic (6) 6
young adult (6) 6
array cgh (5) 5
chromosomes (5) 5
deletion (5) 5
developmental delay (5) 5
microdeletion (5) 5
pathology (5) 5
patients (5) 5
pediatrics (5) 5
abnormalities, multiple - genetics (4) 4
abridged index medicus (4) 4
array comparative genomic hybridization (4) 4
case report (4) 4
chromosome (4) 4
core binding factor alpha 2 subunit (4) 4
developmental disabilities - genetics (4) 4
fusion protein (4) 4
gene duplication (4) 4
genes (4) 4
genetic aspects (4) 4
genetic disorders (4) 4
identification (4) 4
intellectual disability - genetics (4) 4
mechanisms (4) 4
medicine (4) 4
mice, transgenic (4) 4
middle aged (4) 4
neoplasms - genetics (4) 4
nf1 (4) 4
oncogene proteins, fusion - genetics (4) 4
receptor (4) 4
research (4) 4
sequence deletion (4) 4
transcription factors - genetics (4) 4
age (3) 3
aml1 gene (3) 3
analysis (3) 3
article (3) 3
biopsy (3) 3
bone marrow (3) 3
chromosome aberrations (3) 3
chromosomes, human, pair 22 - genetics (3) 3
classification (3) 3
cleft palate - genetics (3) 3
comparative genomic hybridization - methods (3) 3
cytogenetic analysis (3) 3
de-novo (3) 3
deletions (3) 3
disorders (3) 3
dna copy number variations - genetics (3) 3
dna-binding proteins - genetics (3) 3
gastroenterology and hepatology (3) 3
gene rearrangement (3) 3
genetics (3) 3
health aspects (3) 3
hematopoietic stem cells - metabolism (3) 3
infant, newborn (3) 3
laboratories (3) 3
medical and health sciences (3) 3
medicin (3) 3
medicin och hälsovetenskap (3) 3
mental retardation (3) 3
mice, inbred c57bl (3) 3
microarray (3) 3
myelodysplastic syndromes (3) 3
neoplasms - diagnosis (3) 3
neurodevelopmental disorders (3) 3
neurofibromatosis type 1 (3) 3
neurofibromatosis type-1 (3) 3
nonallelic homologous recombination (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Current Protocols in Human Genetics, ISSN 1934-8266, 2014, Volume 2014, pp. 8.2.1 - 8.2.10
The goal of any clinical laboratory should be to provide patients with the most accurate test results possible. This is accomplished through various... 
Cytogenetics | Genetic testing | Healthcare quality assurance | Humans | Quality Assurance, Health Care | Quality Control
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1243 - 1246
Journal Article
Human Genetics, ISSN 0340-6717, 10/2011, Volume 130, Issue 4, pp. 517 - 528
Journal Article
Journal Article
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 05/2019, Volume 21, Issue 9, pp. 1903 - 1915
The detection of acquired copy-number abnormalities (CNAs) and copy-neutral loss of heterozygosity (CN-LOH) in neoplastic disorders by chromosomal microarray... 
Consortia | Laboratories | Genomics | Index Medicus
Journal Article
Journal Article
Blood, ISSN 0006-4971, 02/2017, Volume 129, Issue 8, pp. 1008 - 1020
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 165, Issue 5, pp. 1057 - 1059.e4
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2791 - 2797
Phelan‐McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This... 
B‐cell Activation Factor Receptor | TCF20 | hypogammaglobulinemia | TNFRSF13C | 22q13.2 microdeletion | Phelan‐McDermid syndrome | SHANK3 | Phelan-McDermid syndrome | B-cell Activation Factor Receptor | BAFF | DE-NOVO | GENETICS & HEREDITY | RECEPTOR | DELETIONS | Neonates | Autism | Clonal deletion | Immunodeficiency | Chromosome 22 | Chromosome deletion | Gene deletion | Patients
Journal Article
Case reports in hematology, ISSN 2090-6560, 2019, Volume 2019, pp. 3536517 - 3
We describe a case of late relapse of Philadelphia-like acute lymphoblastic leukemia. The patient relapsed several years from diagnosis and responded to second... 
Flow cytometry | Leukemia | Multiple myeloma | Oncology | Patients | Medicine | Genotype & phenotype | Chemotherapy | Biopsy | Medical prognosis | Hemoglobin | Bone marrow | Cytogenetics | Lymphomas | Mutation | Chromosomes
Journal Article