X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2751) 2751
Publication (321) 321
Book Chapter (35) 35
Book Review (22) 22
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 (2168) 2168
uniparental disomy (1912) 1912
female (1414) 1414
index medicus (1267) 1267
genetics & heredity (1188) 1188
male (1148) 1148
adult (661) 661
phenotype (519) 519
mutation (508) 508
uniparental disomy - genetics (505) 505
mosaicism (477) 477
child (457) 457
pregnancy (437) 437
genomic imprinting (419) 419
child, preschool (355) 355
infant (351) 351
prader-willi syndrome (349) 349
chromosome aberrations (338) 338
dna methylation (334) 334
karyotyping (329) 329
adolescent (310) 310
infant, newborn (308) 308
chromosomes (300) 300
genetic aspects (299) 299
in situ hybridization, fluorescence (283) 283
prader-willi syndrome - genetics (268) 268
genetics (259) 259
oncology (259) 259
maternal uniparental disomy (255) 255
methylation (255) 255
polymorphism, single nucleotide (253) 253
gene (249) 249
diagnosis (248) 248
hematology (248) 248
analysis (243) 243
obstetrics & gynecology (241) 241
middle aged (239) 239
pediatrics (230) 230
imprinting (229) 229
isodisomy (223) 223
mutations (222) 222
research (221) 221
animals (216) 216
genes (207) 207
genotype (205) 205
trisomy (204) 204
deletion (199) 199
biochemistry & molecular biology (192) 192
chromosome deletion (189) 189
prenatal diagnosis (186) 186
cancer (178) 178
alleles (177) 177
aneuploidy (167) 167
pedigree (166) 166
abnormalities, multiple - genetics (162) 162
children (162) 162
loss of heterozygosity (159) 159
article (154) 154
acquired uniparental disomy (150) 150
expression (150) 150
prader-willi-syndrome (150) 150
comparative genomic hybridization (147) 147
gene expression (146) 146
angelman syndrome (145) 145
confined placental mosaicism (145) 145
genomics (145) 145
angelman syndrome - genetics (143) 143
microsatellite repeats (142) 142
aged (139) 139
identification (138) 138
genomes (137) 137
mice (135) 135
cytogenetics (134) 134
syndrome (134) 134
oligonucleotide array sequence analysis (133) 133
young adult (132) 132
chromosomes, human, pair 15 (131) 131
chromosomes, human, pair 15 - genetics (130) 130
prenatal-diagnosis (130) 130
endocrinology & metabolism (129) 129
beckwith-wiedemann syndrome (125) 125
cell biology (124) 124
uniparental disomy - diagnosis (123) 123
polymerase chain reaction (121) 121
amniocentesis (120) 120
region (117) 117
trisomy - genetics (117) 117
homozygote (116) 116
base sequence (115) 115
genetic disorders (115) 115
genetic research (114) 114
acute myeloid-leukemia (109) 109
chromosome mapping (109) 109
translocation, genetic (109) 109
dna mutational analysis (107) 107
origin (107) 107
prognosis (107) 107
patient (106) 106
fetal growth retardation - genetics (105) 105
copy number (104) 104
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2688) 2688
German (25) 25
Japanese (23) 23
French (18) 18
Spanish (15) 15
Chinese (8) 8
Russian (6) 6
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


Journal Article
by Li, XF and Liu, Y and Yue, S and Wang, L and Zhang, TJ and Guo, CX and Hu, WJ and Kagan, KO and Wu, QQ
MEDICINE, ISSN 0025-7974, 11/2017, Volume 96, Issue 45, p. e8474
Rationale:Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD... 
phenotype-genotype | MEDICINE, GENERAL & INTERNAL | small supernumerary marker chromosomes | CHROMOSOME 14 | ULTRASOUND | single-nucleotide polymorphism-based array | prenatal ultrasound | FETUSES | IDENTIFICATION | uniparental disomy
Journal Article
Journal Article
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 2, pp. 186 - 191
OBJECTIVE:Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD:Herein, we describe 4 novel homozygous FA2H... 
ISODISOMY | CLINICAL NEUROLOGY | Heredodegenerative Disorders, Nervous System - genetics | Humans | Uniparental Disomy | Male | Codon, Nonsense | Mutation, Missense | Adolescent | Chromosomes, Human, Pair 16 | Family | Female | Mixed Function Oxygenases - genetics | Child | Microsatellite Repeats | 313 | 162 | 163 | 174
Journal Article
Journal Article