X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (212) 212
female (131) 131
index medicus (95) 95
genetics & heredity (93) 93
male (93) 93
infant, newborn (80) 80
pregnancy (71) 71
adult (66) 66
rib-polydactyly syndrome (65) 65
short rib-polydactyly syndrome - diagnostic imaging (58) 58
short rib-polydactyly syndrome - genetics (56) 56
short rib-polydactyly syndrome - pathology (54) 54
asphyxiating thoracic dystrophy (51) 51
radiography (50) 50
mutation (48) 48
short rib-polydactyly syndrome - diagnosis (38) 38
phenotype (36) 36
short rib-polydactyly syndrome (36) 36
prenatal diagnosis (35) 35
cilia (34) 34
animals (33) 33
ultrasonography, prenatal (33) 33
obstetrics & gynecology (30) 30
pediatrics (30) 30
skeletal dysplasia (29) 29
diagnosis, differential (28) 28
genetic aspects (27) 27
syndrome (27) 27
dysplasia (25) 25
pedigree (25) 25
jeune syndrome (24) 24
mutations (24) 24
infant (22) 22
cell biology (21) 21
genes (21) 21
research (21) 21
article (20) 20
intraflagellar transport (20) 20
dync2h1 (19) 19
genetics (19) 19
polydactyly (19) 19
radiology, nuclear medicine & medical imaging (19) 19
cilia - metabolism (18) 18
ciliopathy (18) 18
cytoplasmic dyneins - genetics (18) 18
fatal outcome (18) 18
short rib-polydactyly syndrome - classification (18) 18
anomalies (17) 17
ciliopathies (17) 17
disease (17) 17
protein (17) 17
ultrasonography (17) 17
ellis-van creveld syndrome - genetics (16) 16
majewski syndrome (16) 16
osteochondrodysplasias - pathology (15) 15
ribs - abnormalities (15) 15
bardet-biedl-syndrome (14) 14
child (14) 14
child, preschool (14) 14
cilia - genetics (14) 14
dync2h1 mutations (14) 14
genes, recessive (14) 14
ultrasound (14) 14
van-creveld-syndrome (14) 14
abnormalities (13) 13
acoustics (13) 13
consanguinity (13) 13
dynein (13) 13
fetal diseases - diagnostic imaging (13) 13
gene mutations (13) 13
biochemistry & molecular biology (12) 12
cilia - pathology (12) 12
cytoplasmic dynein (12) 12
gene (12) 12
intraflagellar transport protein (12) 12
prenatal-diagnosis (12) 12
report (12) 12
carrier proteins - genetics (11) 11
ellis-van creveld syndrome - pathology (11) 11
mice (11) 11
physiological aspects (11) 11
sense organs (11) 11
short rib-polydactyly syndrome - complications (11) 11
short-rib polydactyly syndrome (11) 11
abnormalities, multiple - genetics (10) 10
bone and bones - abnormalities (10) 10
cilia - physiology (10) 10
continuous-spectrum (10) 10
cranioectodermal dysplasia (10) 10
defects (10) 10
dyneins - metabolism (10) 10
genetic disorders (10) 10
majewski (10) 10
medicine & public health (10) 10
polycystic kidney-disease (10) 10
primary cilia (10) 10
proteins - genetics (10) 10
sensenbrenner syndrome (10) 10
beemer-langer syndrome (9) 9
bone and bones - diagnostic imaging (9) 9
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (255) 255
German (7) 7
Japanese (4) 4
Dutch (1) 1
French (1) 1
Hungarian (1) 1
Italian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European Journal of Pediatrics, ISSN 0340-6199, 9/2012, Volume 171, Issue 9, pp. 1285 - 1300
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their... 
Pediatrics | ARPKD | Jeune syndrome (ATD) | Joubert syndrome (JBTS) | Oligogenic inheritance | Mutational load | Congenital hepatic fibrosis/ductal plate malformation | Cystic kidneys | von Hippel-Lindau (VHL) | Cilia/ciliopathies | Sensenbrenner syndrome | Nephronophthisis (NPHP) | Short-rib polydactyly syndromes | Meckel syndrome (MKS) | ADPKD | Medicine & Public Health | Ellis-van Crefeld syndrome (EVC) | Bardet–Biedl syndrome (BBS) | Alstrom syndrome | Primary ciliary dyskinesia (Kartagener syndrome) | Tuberous sclerosis (TSC) | Ivemark syndrome | Modifier | Polycystic kidney disease | Von Hippel-Lindau (VHL) | Bardet-Biedl syndrome (BBS) | Ellis-Van Crefeld syndrome (EVC) | CLINICAL-TRIAL | HEPATIC CYSTS | GROWTH | BARDET-BIEDL-SYNDROME | PEDIATRICS | MUTATIONS | POLYCYSTIC KIDNEY-DISEASE | MECHANISMS | PRIMARY CILIUM | GENE | LONG-ACTING SOMATOSTATIN | Short Rib-Polydactyly Syndrome - diagnosis | Kidney Diseases, Cystic - diagnosis | Kidney Diseases, Cystic - physiopathology | Ciliary Motility Disorders - physiopathology | Genetic Testing | Humans | Bardet-Biedl Syndrome - therapy | Short Rib-Polydactyly Syndrome - genetics | Bardet-Biedl Syndrome - physiopathology | Short Rib-Polydactyly Syndrome - therapy | Short Rib-Polydactyly Syndrome - physiopathology | Bardet-Biedl Syndrome - diagnosis | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Ciliary Motility Disorders - diagnosis | Kidney Diseases, Cystic - therapy | Ciliary Motility Disorders - therapy | Ciliary Motility Disorders - genetics | Genes | Medical genetics | Tuberous sclerosis | Diabetes | Kidney diseases | Mental illness | Cells | ductal plate malformation | Review | Congenital hepatic fibrosis | Cilia | ciliopathies
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 11/2009, Volume 151C, Issue 4, pp. 281 - 295
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar functions. The most obvious example of the latter is motility:... 
Joubert syndrome | OMIM | RIB-POLYDACTYLY SYNDROME | ALSTROM-SYNDROME | ciliopathy | JOUBERT-SYNDROME | Bardet-Biedl | HEPATIC-PANCREATIC DYSPLASIA | MECKEL-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME PROTEINS | CEREBELLAR DEVELOPMENT | cilia | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT
Journal Article
Cold Spring Harbor Perspectives in Biology, ISSN 1943-0264, 03/2017, Volume 9, Issue 3, p. a028191
Journal Article
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 248 - 249
Journal Article