X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
chromosome-20 (116) 116
index medicus (114) 114
humans (108) 108
female (71) 71
male (65) 65
genetics & heredity (58) 58
adult (29) 29
chromosomes, human, pair 20 (29) 29
genes (28) 28
mutation (28) 28
pedigree (26) 26
epilepsy (25) 25
middle aged (23) 23
gene (22) 22
linkage (22) 22
chromosomes, human, pair 20 - genetics (21) 21
clinical neurology (20) 20
corneal dystrophies, hereditary - genetics (20) 20
expression (20) 20
genetic aspects (20) 20
aged (19) 19
child (19) 19
phenotype (19) 19
in situ hybridization, fluorescence (18) 18
oncology (18) 18
adolescent (17) 17
animals (17) 17
chromosome deletion (17) 17
ophthalmology (17) 17
child, preschool (16) 16
chromosomes (16) 16
ring chromosome-20 (16) 16
seizures (16) 16
chromosome 20 (15) 15
mosaicism (15) 15
base sequence (14) 14
chromosome aberrations (14) 14
family (14) 14
genetics (14) 14
identification (14) 14
chromosome mapping (13) 13
comparative genomic hybridization (13) 13
epilepsy - genetics (13) 13
molecular sequence data (13) 13
research (13) 13
analysis (11) 11
biochemistry & molecular biology (11) 11
dna (11) 11
genetic linkage (11) 11
karyotyping (11) 11
multidisciplinary sciences (11) 11
polymerase chain reaction (11) 11
syndrome (11) 11
anion transport proteins - genetics (10) 10
antiporters - genetics (10) 10
hematology (10) 10
infant, newborn (10) 10
leukemia (10) 10
localization (10) 10
prognosis (10) 10
amino acid sequence (9) 9
deletion (9) 9
electroencephalography (9) 9
genetic research (9) 9
genomics (9) 9
genotype (9) 9
locus (9) 9
aged, 80 and over (8) 8
alleles (8) 8
dna mutational analysis (8) 8
pregnancy (8) 8
region (8) 8
article (7) 7
biotechnology & applied microbiology (7) 7
ched2 (7) 7
cornea (7) 7
corneal dystrophies, hereditary - pathology (7) 7
endothelium (7) 7
genetic disorders (7) 7
infant (7) 7
linkage analysis (7) 7
long arm (7) 7
medicine (7) 7
medicine, research & experimental (7) 7
mice (7) 7
mutations (7) 7
myelodysplastic syndromes - genetics (7) 7
neurosciences (7) 7
potassium channel gene (7) 7
research article (7) 7
risk factors (7) 7
sequence analysis, dna (7) 7
transcription factors - genetics (7) 7
arteriohepatic dysplasia (6) 6
deletions (6) 6
diagnosis (6) 6
exons (6) 6
gene expression (6) 6
genes, recessive (6) 6
human genetics (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Blood, ISSN 0006-4971, 05/2019, Volume 134, Issue 3, pp. 277 - 290
Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly... 
GENE | NEUTROPENIA | BONE-MARROW | GUIDELINES | SBDS | CLASSIFICATION | CHROMOSOME-20 | HEMATOLOGY | MARROW FAILURE | PROTEIN-SYNTHESIS | 60S RIBOSOMAL-SUBUNIT
Journal Article
Journal Article
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 10/2001, Volume 10, Issue 21, pp. 2415 - 2423
Journal Article
Epilepsy Research, ISSN 0920-1211, 11/2018, Volume 147, pp. 22 - 31
Journal Article
Journal Article
Journal Article
Journal Article
by Deloukas, P and Deloukas, P and Matthews, L.H and Ashurst, J and Burton, J and Gilbert, J.G.R and Jones, M and Stavrides, G and Almeida, J.P and Babbage, A.K and Bagguley, C.L and Bailey, J and Barlow, K.F and Bates, K.N and Beard, L.M and Beard, L.M and Beare, D.M and Beasley, O.P and Bird, C.P and Blakey, S.E and Bridgeman, A.M and Bridgeman, A.M and Brown, A.J and Brown, A.J and Buck, D and Buck, D and Burrill, W and Butler, A.P and Carder, C and Carter, N.P and Chapman, J.C and Clamp, M and Clamp, M and Clark, G and Clark, G and Clark, L.N and Clark, S.Y and Clee, C.M and Clegg, S and Clegg, S and Cobley, V.E and Collier, R.E and Connor, R and Corby, N.R and Coulson, A and Coville, G.J and Deadman, R and Dhami, P and Dunn, M and Ellington, A.G and Frankland, J.A and Fraser, A and Fraser, A and French, L and French, L and Garner, P and Grafham, D.V and Griffiths, C and Griffiths, M.N.D and Gwilliam, R and Hall, R.E and Hammond, S and Hammond, S and Harley, J.L and Heath, P.D and Ho, S and Holden, J.L and Holden, J.L and Howden, P.J and Huckle, E and Hunt, A.R and Hunt, S.E and Hunt, S.E and Jekosch, K and Johnson, C.M and Johnson, C.M and Johnson, D and Johnson, D and Kay, M.P and Kimberley, A.M and King, A and Knights, A and Laird, G.K and Lawlor, S and Lehvaslaiho, M.H and Leversha, M and Lloyd, C and Lloyd, D.M and Lloyd, D.M and Lovell, J.D and Marsh, V.L and Martin, S.L and McConnachie, L.J and McLay, K and McMurray, A.A and Milne, S and Mistry, D and Moore, M.J.F and Mullikin, J.C and Nickerson, T and ... and The Wellcome Trust Sanger Institute
Nature, ISSN 0028-0836, 12/2001, Volume 414, Issue 6866, pp. 865 - 871
Journal Article