X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (83) 83
humans (73) 73
mutation (54) 54
female (41) 41
genetics & heredity (38) 38
animals (37) 37
genetic aspects (35) 35
male (32) 32
oncology (27) 27
mice (26) 26
genes (21) 21
health aspects (20) 20
proteins (19) 19
research (19) 19
phenotype (18) 18
cell biology (17) 17
child (17) 17
gene mutations (17) 17
genetics (17) 17
adult (16) 16
biochemistry & molecular biology (16) 16
heterozygote (16) 16
heterozygous mutations (15) 15
cancer (14) 14
genetic predisposition to disease (14) 14
heterozygous mice (14) 14
pedigree (14) 14
analysis (13) 13
germline mutations (13) 13
breast cancer (12) 12
dna mutational analysis (12) 12
gene (12) 12
genetic research (12) 12
heterozygous carriers (12) 12
mutations (12) 12
breast-cancer (11) 11
genetic disorders (11) 11
germ-line mutation (11) 11
heterozygous (11) 11
heterozygous germline mutations (11) 11
risk factors (11) 11
adolescent (10) 10
aged (10) 10
care and treatment (10) 10
cells (10) 10
child, preschool (10) 10
gene expression (10) 10
genotype (10) 10
i171v mutation (10) 10
mice, inbred c57bl (10) 10
nbs1 gene (10) 10
neurosciences (10) 10
patients (10) 10
phenotypes (10) 10
research article (10) 10
base sequence (9) 9
case-control studies (9) 9
exons (9) 9
medicine (9) 9
middle aged (9) 9
nuclear proteins - genetics (9) 9
polymerase chain reaction (9) 9
tumors (9) 9
apoptosis (8) 8
article (8) 8
breast neoplasms - genetics (8) 8
cell cycle proteins - genetics (8) 8
compound heterozygous mutations (8) 8
deoxyribonucleic acid--dna (8) 8
disease (8) 8
dna repair (8) 8
genomics (8) 8
medicine & public health (8) 8
of-function mutations (8) 8
pediatrics (8) 8
colorectal cancer (7) 7
disease models, animal (7) 7
dna-binding proteins - genetics (7) 7
endocrinology & metabolism (7) 7
expression (7) 7
genotype & phenotype (7) 7
heterozygous mutation (7) 7
internal medicine (7) 7
medicine, research & experimental (7) 7
mouse model (7) 7
nonpolyposis colorectal-cancer (7) 7
protein (7) 7
studies (7) 7
alleles (6) 6
association (6) 6
biomedicine (6) 6
cardiac & cardiovascular systems (6) 6
clinical neurology (6) 6
development and progression (6) 6
diagnosis (6) 6
dna repair enzymes - genetics (6) 6
family (6) 6
genomes (6) 6
germline mutation (6) 6
identification (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
International Journal of Cancer, ISSN 0020-7136, 08/2004, Volume 111, Issue 1, pp. 67 - 71
Journal Article
Cold Spring Harbor Perspectives in Medicine, ISSN 2157-1422, 04/2017, Volume 7, Issue 4, p. a026187
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2016, Volume 61, Issue 1, pp. 33 - 39
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2017, Volume 91, Issue 4, pp. 507 - 519
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss‐of‐function... 
acute myeloid leukaemia | neurofibromatosis type 1 | childhood cancer | constitutional mismatch repair deficiency | high‐grade glioma | café‐au‐lait spot | rhabdomyosarcoma | germline mutation | mismatch repair gene | high-grade glioma | café-au-lait spot | COMPOUND-HETEROZYGOUS MUTATIONS | LYNCH-SYNDROME | HEMATOLOGICAL MALIGNANCY | GLIOBLASTOMA-MULTIFORME | MICROSATELLITE INSTABILITY | cafe-au-lait spot | EUROPEAN CONSORTIUM CARE | GENETICS & HEREDITY | EARLY-ONSET | GERMLINE MUTATIONS | BIALLELIC PMS2 MUTATIONS | AU-LAIT SPOTS | Neoplastic Syndromes, Hereditary - pathology | Glioma - diagnosis | Neurofibromatosis 1 - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Child, Preschool | Rhabdomyosarcoma - pathology | DNA Mismatch Repair - genetics | Cafe-au-Lait Spots - diagnosis | Colorectal Neoplasms - diagnosis | Glioma - genetics | Neoplastic Syndromes, Hereditary - epidemiology | Glioma - pathology | Germ-Line Mutation | Neoplastic Syndromes, Hereditary - genetics | Neurofibromatosis 1 - genetics | Colorectal Neoplasms - epidemiology | Cafe-au-Lait Spots - genetics | Diagnosis, Differential | Rhabdomyosarcoma - diagnosis | Leukemia, Myeloid, Acute - pathology | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Neoplastic Syndromes, Hereditary - diagnosis | Neurofibromatosis 1 - diagnosis | Cafe-au-Lait Spots - physiopathology | Neurofibromatosis 1 - pathology | Phenotype | Leukemia, Myeloid, Acute - diagnosis | Rhabdomyosarcoma - genetics | Colorectal Neoplasms - pathology | Brain Neoplasms - epidemiology | Leukemia, Myeloid, Acute - genetics | Medical research | Gene mutations | Gliomas | Neurofibromatosis | Leukemia | Medicine, Experimental | Disease susceptibility | Pediatrics | Genotype & phenotype | Medical diagnosis | Cancer
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2016, Volume 25, Issue 2, pp. R123 - R132
Journal Article
Journal Article
Archives of Medical Science, ISSN 1734-1922, 02/2017, Volume 13, Issue 1, pp. 215 - 222
Journal Article