X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1628) 1628
Publication (254) 254
Book Chapter (45) 45
Book Review (25) 25
Dissertation (7) 7
Reference (2) 2
Book / eBook (1) 1
Conference Proceeding (1) 1
Magazine Article (1) 1
Video Recording (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (1067) 1067
female (559) 559
index medicus (538) 538
lemli-opitz-syndrome (506) 506
male (485) 485
genetics & heredity (483) 483
animals (427) 427
smith-lemli-opitz syndrome (394) 394
cholesterol (382) 382
biochemistry & molecular biology (335) 335
smith-lemli-opitz syndrome - genetics (252) 252
mutation (220) 220
pregnancy (215) 215
7-dehydrocholesterol (214) 214
mutations (209) 209
infant (208) 208
child (194) 194
phenotype (192) 192
infant, newborn (186) 186
child, preschool (179) 179
mice (178) 178
adult (165) 165
cholesterol - metabolism (161) 161
article (159) 159
smith-lemli-opitz syndrome - diagnosis (159) 159
smith-lemli-opitz syndrome - metabolism (157) 157
cholesterol - biosynthesis (149) 149
syndrome (137) 137
pediatrics (133) 133
biosynthesis (128) 128
metabolism (126) 126
gene (125) 125
adolescent (120) 120
lipids (119) 119
lemli-opitz syndrome (117) 117
endocrinology & metabolism (112) 112
physiological aspects (109) 109
oxidoreductases acting on ch-ch group donors - genetics (105) 105
diagnosis (99) 99
abnormalities, multiple - genetics (98) 98
cell biology (97) 97
cholesterol-biosynthesis (97) 97
defective cholesterol-biosynthesis (95) 95
cholesterol - blood (94) 94
opitz syndrome (94) 94
smith-lemli-opitz syndrome - pathology (94) 94
rats (91) 91
oxidoreductases acting on ch-ch group donors (89) 89
smith–lemli–opitz syndrome (88) 88
dehydrocholesterols - metabolism (86) 86
smith-lemli-opitz syndrome - blood (85) 85
smith‐lemli‐opitz syndrome (85) 85
disease models, animal (82) 82
7-dehydrocholesterol reductase (80) 80
analysis (80) 80
transcription factors - genetics (79) 79
research (76) 76
neurosciences (75) 75
congenital, hereditary, and neonatal diseases and abnormalities (74) 74
obstetrics & gynecology (73) 73
genetic aspects (72) 72
medicine, research & experimental (72) 72
prenatal diagnosis (72) 72
dehydrocholesterols - blood (71) 71
genetic disorders (69) 69
opitz-syndrome (69) 69
delta-7-sterol reductase (68) 68
genetics (68) 68
molecular sequence data (68) 68
proteins (68) 68
dhcr7 (67) 67
sterols (67) 67
genes (64) 64
biophysics (63) 63
prenatal-diagnosis (63) 63
genotype (62) 62
oxidoreductases - genetics (60) 60
amino acid sequence (59) 59
expression (59) 59
signal transduction (58) 58
developmental biology (57) 57
mass spectrometry (56) 56
children (55) 55
brain (54) 54
plasma (54) 54
sonic hedgehog (54) 54
sonic-hedgehog (54) 54
enzymes (53) 53
smith-lemli-opitz syndrome - physiopathology (53) 53
sterols - metabolism (53) 53
identification (52) 52
mid1 (51) 51
opitz g/bbb syndrome (51) 51
smith-lemli-opitz syndrome - enzymology (51) 51
dna mutational analysis (50) 50
intellectual disability - genetics (50) 50
pedigree (50) 50
base sequence (49) 49
mouse model (49) 49
cells, cultured (48) 48
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1585) 1585
French (17) 17
Spanish (16) 16
German (14) 14
Japanese (11) 11
Polish (10) 10
Czech (4) 4
Korean (3) 3
Portuguese (3) 3
Slovak (3) 3
Chinese (2) 2
Dutch (2) 2
Russian (2) 2
Finnish (1) 1
Hungarian (1) 1
Italian (1) 1
Lithuanian (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Ultrasound in Obstetrics and Gynecology, ISSN 0960-7692, 06/1998, Volume 11, Issue 6, pp. 391 - 400
Increased fetal nuchal translucency thickness at 10–14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural... 
Beckwith‐Wiedemann Syndrome | Cardiac Defects | Fryns' Syndrome | Joubert Syndrome | Noonan Syndrome | Fetal Abnormalities | Campomelic Dysplasia | Diaphragmatic Hernia | Smith‐Lemli‐Opitz Syndrome | Spinal Muscular Atrophy | Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome | Hydrolethalus Syndrome | Thanatophoric Dysplasia | Nuchal Translucency | Jarcho‐Levin Syndrome | Nance‐Sweeney Syndrome | Vacter Association | Zellweger Syndrome | Trigonocephaly ‘C’ | Body Stalk Anomaly | Achondrogenesis | Jeune Syndrome | 10–14‐Week Scan | Achondroplasia | Exomphalos | Akinesia Deformation Sequence | Roberts Syndrome | Skeletal Defects | Beckwith-Wiedemann syndrome | Hydrolethalus syndrome | Roberts syndrome | Nance-Sweeney syndrome | Joubert syndrome | Smith-Lemli-Opitz syndrome | 10-14-week scan | Fetal abnormalities | Jarcho-Levin syndrome | Body stalk anomaly | Jeune syndrome | Diaphragmatic hernia | Noonan syndrome | Skeletal defects | Campomelic dysplasia | Nuchal translucency | Fryns' syndrome | Cardiac defects | Ectrodactyly-ectodermal dysplasia-clefting syndrome | Akinesia deformation sequence | akinesia deformation sequence | LEMLI-OPITZ-SYNDROME | cardiac defects | achondroplasia | OBSTETRICS & GYNECOLOGY | MATERNAL AGE | ACOUSTICS | thanatophoric dysplasia | campomelic dysplasia | nuchal translucency | ULTRASOUND | CONGENITAL HEART-DISEASE | Zellweger syndrome | spinal muscular atrophy | 1ST TRIMESTER | 1ST-TRIMESTER DIAGNOSIS | CYSTIC HYGROMAS | FIRST-TRIMESTER DIAGNOSIS | body stalk anomaly | exomphalos | trigonocephaly 'C' | VACTER association | ectrodactyly ectodermal dysplasia clefting syndrome | hydrolethalus syndrome | skeletal defects | TRANSVAGINAL ULTRASONOGRAPHY | diaphragmatic hernia | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | fetal abnormalities | achondrogenesis | ABDOMINAL-WALL | Congenital Abnormalities - epidemiology | Prevalence | Neck - diagnostic imaging | Humans | Risk Factors | Reference Values | Fetal Diseases - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Gestational Age | Syndrome | Fetal Diseases - genetics | Pregnancy | Crown-Rump Length | Ultrasonography, Prenatal | Fetal Death - epidemiology | Fetal Diseases - epidemiology | Karyotyping | Adult | Female | Neck - embryology | United Kingdom - epidemiology | Pregnancy Outcome
Journal Article
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 01/2011, Volume 52, Issue 1, pp. 6 - 34
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2015, Volume 169, Issue 2, pp. 172 - 181
Journal Article
Journal Article