X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (631) 631
Publication (112) 112
Book Chapter (9) 9
Book Review (7) 7
Magazine Article (3) 3
Newspaper Article (1) 1
Presentation (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (438) 438
index medicus (417) 417
joubert syndrome (308) 308
joubert-syndrome (296) 296
genetics & heredity (212) 212
female (193) 193
male (191) 191
animals (184) 184
mutation (177) 177
mutations (146) 146
cerebellum - abnormalities (140) 140
genetic aspects (122) 122
child (117) 117
kidney diseases, cystic - genetics (116) 116
article (114) 114
research (114) 114
cilia (108) 108
magnetic resonance imaging (100) 100
phenotype (96) 96
retina - abnormalities (94) 94
bardet-biedl-syndrome (93) 93
syndrome (93) 93
mice (90) 90
genetics (89) 89
brain (87) 87
gene (84) 84
centrosomal protein (82) 82
abnormalities, multiple - genetics (81) 81
proteins (81) 81
nephronophthisis (80) 80
ciliopathy (79) 79
cell biology (77) 77
cilia - metabolism (76) 76
neurosciences (76) 76
disorders (75) 75
adolescent (74) 74
child, preschool (74) 74
disease (74) 74
pediatrics (72) 72
genes (71) 71
eye abnormalities - genetics (70) 70
infant (69) 69
diagnosis (67) 67
adult (65) 65
ciliopathies (65) 65
molar tooth sign (64) 64
primary cilium (64) 64
cilia - pathology (63) 63
pedigree (63) 63
cerebellum (61) 61
gene mutations (59) 59
clinical neurology (57) 57
retinal degeneration (57) 57
biochemistry & molecular biology (55) 55
intraflagellar transport (54) 54
physiological aspects (53) 53
primary cilia (53) 53
signal transduction (53) 53
cilia - genetics (52) 52
protein (52) 52
leber congenital amaurosis (50) 50
abnormalities, multiple (48) 48
ataxia (48) 48
proteins - genetics (48) 48
health aspects (47) 47
analysis (46) 46
cerebellum - pathology (46) 46
ciliogenesis (45) 45
membrane proteins - genetics (45) 45
cerebellar diseases - genetics (44) 44
genetic disorders (44) 44
kidney diseases, cystic - diagnosis (43) 43
risk factors (42) 42
adaptor proteins, signal transducing - genetics (41) 41
care and treatment (41) 41
cerebellar vermis (40) 40
meckel-gruber-syndrome (40) 40
medicine (40) 40
dna mutational analysis (39) 39
kidney diseases, cystic - pathology (39) 39
transition zone (39) 39
congenital defects (38) 38
polycystic kidney-disease (38) 38
eye diseases (37) 37
infant, newborn (37) 37
neurodevelopmental disorders (36) 36
ciliary motility disorders - genetics (35) 35
pregnancy (35) 35
young adult (35) 35
abnormalities, multiple - diagnosis (34) 34
cep290 (34) 34
cilia - physiology (34) 34
planar cell polarity (34) 34
urology & nephrology (33) 33
abnormalities, multiple - pathology (32) 32
alleles (32) 32
brain - pathology (32) 32
eye abnormalities - diagnosis (32) 32
homozygote (32) 32
children (31) 31
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
BMC Research Notes, ISSN 1756-0500, 12/2017, Volume 10, Issue 1, pp. 1 - 5
Abstract Background Joubert’s syndrome is a rare condition affecting an estimated 1:80,000–1:100,000 individuals. There is underdevelopment of the cerebellar... 
Joubert’s syndrome | Case report | Peritoneal dialysis | Sub-Saharan Africa
Journal Article
NEUROLOGIA I NEUROCHIRURGIA POLSKA, ISSN 0028-3843, 07/2012, Volume 46, Issue 4, pp. 379 - 383
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2017, Volume 18, Issue 1, pp. 37 - 5
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 06/2010, Volume 8, Issue 2, pp. 199 - 204
Abstract Joubert syndrome and Joubert syndrome related disorders are rare autosomal recessive disorders, clinically and genetically heterogeneous characterized... 
molar tooth sign | ocular apraxia | ataxia | Joubert syndrome | Medical imaging | Illnesses | Genetic counseling | Ataxia | Triglycerides | Family medical history | Mental retardation
Journal Article
European Review for Medical and Pharmacological Sciences, ISSN 1128-3602, 2015, Volume 19, Issue 12, pp. 2297 - 2300
OBJECTIVE: Joubert syndrome (JS) and related disorders (JSRD) (OMIM #213300) are a group of developmental delay/multiple congenital anomalies syndromes in... 
Joubert syndrome and related disorders | Child | Liver | PHARMACOLOGY & PHARMACY | MUTATIONS | COACH SYNDROME
Journal Article