X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2898) 2898
Publication (339) 339
Book Chapter (36) 36
Book Review (23) 23
Conference Proceeding (7) 7
Dissertation (3) 3
Book / eBook (2) 2
Newspaper Article (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (2267) 2267
uniparental disomy (1861) 1861
female (1452) 1452
index medicus (1270) 1270
genetics & heredity (1269) 1269
male (1245) 1245
adult (712) 712
phenotype (542) 542
mutation (492) 492
uniparental disomy - genetics (488) 488
mosaicism (485) 485
child (476) 476
pregnancy (427) 427
genomic imprinting (414) 414
child, preschool (382) 382
prader-willi syndrome (369) 369
chromosome aberrations (365) 365
infant (365) 365
karyotyping (360) 360
in situ hybridization, fluorescence (335) 335
adolescent (326) 326
dna methylation (326) 326
chromosomes (315) 315
genetic aspects (310) 310
infant, newborn (309) 309
genetics (282) 282
prader-willi syndrome - genetics (274) 274
gene (269) 269
middle aged (261) 261
maternal uniparental disomy (257) 257
methylation (256) 256
analysis (255) 255
oncology (254) 254
obstetrics & gynecology (253) 253
polymorphism, single nucleotide (247) 247
disomy (246) 246
diagnosis (244) 244
hematology (238) 238
research (231) 231
aneuploidy (230) 230
imprinting (229) 229
animals (224) 224
isodisomy (224) 224
pediatrics (223) 223
deletion (221) 221
mutations (221) 221
biochemistry & molecular biology (209) 209
genes (207) 207
trisomy (206) 206
genotype (204) 204
chromosome deletion (198) 198
pedigree (183) 183
prenatal diagnosis (183) 183
cancer (181) 181
alleles (178) 178
abnormalities, multiple - genetics (177) 177
loss of heterozygosity (163) 163
angelman syndrome (161) 161
article (160) 160
children (160) 160
angelman syndrome - genetics (154) 154
prader-willi-syndrome (153) 153
expression (152) 152
acquired uniparental disomy (149) 149
comparative genomic hybridization (149) 149
aged (148) 148
genomics (147) 147
gene expression (145) 145
microsatellite repeats (145) 145
confined placental mosaicism (143) 143
mice (143) 143
young adult (142) 142
chromosomes, human, pair 15 (140) 140
identification (139) 139
genomes (137) 137
cell biology (134) 134
cytogenetics (134) 134
chromosomes, human, pair 15 - genetics (133) 133
oligonucleotide array sequence analysis (132) 132
region (131) 131
syndrome (131) 131
beckwith-wiedemann syndrome (130) 130
translocation, genetic (127) 127
prenatal-diagnosis (126) 126
genetic research (124) 124
endocrinology & metabolism (123) 123
chromosome mapping (121) 121
in-situ hybridization (121) 121
polymerase chain reaction (120) 120
base sequence (119) 119
genetic disorders (119) 119
uniparental disomy - diagnosis (118) 118
amniocentesis (117) 117
abnormalities (115) 115
homozygote (115) 115
origin (114) 114
trisomy - genetics (114) 114
fish (110) 110
acute myeloid-leukemia (108) 108
patient (108) 108
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2834) 2834
German (26) 26
Japanese (26) 26
French (20) 20
Spanish (13) 13
Chinese (7) 7
Russian (7) 7
Hungarian (4) 4
Czech (3) 3
Italian (2) 2
Korean (2) 2
Polish (2) 2
Turkish (2) 2
Croatian (1) 1
Danish (1) 1
Dutch (1) 1
Icelandic (1) 1
Portuguese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1488 - 1498
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 1929 - 1939
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2463 - 2469
We report on a 6‐month‐old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome‐wide uniparental isodisomy (GWUPiD),... 
hemihypertrophy | genome‐wide uniparental isodisomy | mosaic | UPD | SNP based microarray | Beckwith–Wiedemann | tetralogy of Fallot | uniparental disomy | Tetralogy of Fallot | Beckwith-Wiedemann | Uniparental disomy | Hemihypertrophy | Genome-wide uniparental isodisomy | Mosaic | SURVIVAL | PSEUDOHYPOPARATHYROIDISM | PHENOTYPE | TUMOR | MECHANISMS | CLINICAL-FEATURES | genome-wide uniparental isodisomy | CHILDREN | BECKWITH-WIEDEMANN-SYNDROME | DISEASE | GENETICS & HEREDITY | DISOMY | Uniparental Disomy - diagnosis | Down Syndrome - pathology | Genomic Imprinting | Congenital Hyperinsulinism - diagnosis | Humans | Beckwith-Wiedemann Syndrome - diagnosis | Infant | Beckwith-Wiedemann Syndrome - genetics | DNA Methylation | Congenital Hyperinsulinism - genetics | Congenital Hyperinsulinism - pathology | Uniparental Disomy - genetics | Comparative Genomic Hybridization | Down Syndrome - genetics | Female | Mosaicism | Chromosomes, Human, Pair 11 | Polymorphism, Single Nucleotide | Down Syndrome - diagnosis | Genome, Human | Beckwith-Wiedemann Syndrome - pathology | Karyotype | Uniparental Disomy - pathology | DNA microarrays | Analysis | Genomics | Genetic research | Single nucleotide polymorphisms | Down syndrome | Methylation | Chromosomes | Trisomy | Genomes | Single-nucleotide polymorphism | Hypoglycemia | Down's syndrome | Calcinosis | Cell lines | Skin | Kidney diseases | Hyperpigmentation
Journal Article
Journal Article