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Prenatal Diagnosis, ISSN 0197-3851, 01/2011, Volume 31, Issue 1, pp. 90 - 102
Journal Article
Journal of Perinatal Medicine, ISSN 0300-5577, 03/2016, Volume 44, Issue 2, pp. 131 - 137
Journal Article
Plastic and Reconstructive Surgery, ISSN 0032-1052, 01/2018, Volume 141, Issue 1, pp. 85e - 90e
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 515 - 523
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3231 - 3237
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance... 
rare disorders | Joubert syndrome | INPP5E | molar‐tooth sign | ciliopathy | molar-tooth sign | INPP5E MUTATIONS | AUTOPHAGOSOME-LYSOSOME FUSION | CILIOPATHIES | DISEASE | GENETICS & HEREDITY | DISORDERS | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Humans | Kidney Diseases, Cystic - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Young Adult | Ciliopathies - genetics | Cerebellum - diagnostic imaging | Kidney Diseases, Cystic - genetics | Female | Abnormalities, Multiple - genetics | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Fibroblasts - pathology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Homozygote | Magnetic Resonance Imaging | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Pedigree | Adolescent | Retina - abnormalities | Mutation | Retina - pathology | Ciliopathies - pathology | Medicine, Experimental | Medical research | Inositol | Phosphatases | RNA | Analysis | Cerebellum | Brain | Brain stem | Congenital defects | Teeth | Cognitive ability | Inositol polyphosphate | Retina | mRNA | Neurodevelopmental disorders | Sleep disorders | Apnea | Magnetic resonance imaging | Polydactyly | Fibroblasts | Retinal degeneration | Hindbrain | Ataxia | Dystrophy | Inositol-1,4,5-trisphosphate 5-phosphatase | Cilia
Journal Article
Journal of Obstetrics and Gynaecology Research, ISSN 1341-8076, 11/2017, Volume 43, Issue 11, pp. 1769 - 1772
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2011, Volume 48, Issue 1, pp. 32 - 37
Background Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone... 
ENZYME | SLC35D1 | CLONING | NUCLEOTIDE-SUGAR TRANSPORTER | GENETICS & HEREDITY | IDENTIFICATION | EXPRESSION | APYRASE | FAMILY | Nucleotidases - genetics | Joint Instability - diagnostic imaging | Humans | Joint Instability - classification | Joint Instability - genetics | Cercopithecus aethiops | Child, Preschool | Molecular Sequence Data | Mutation, Missense - genetics | Dwarfism - classification | Craniofacial Abnormalities - classification | Craniofacial Abnormalities - diagnostic imaging | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Hand Deformities, Congenital - diagnostic imaging | Ossification, Heterotopic - complications | Amino Acid Sequence | Hand Deformities, Congenital - complications | Polydactyly - genetics | Polydactyly - complications | Ossification, Heterotopic - diagnostic imaging | Hand - diagnostic imaging | Ossification, Heterotopic - classification | Radiography | Dwarfism - complications | Dwarfism - genetics | Sequence Alignment | Animals | Dwarfism - diagnostic imaging | Nucleotidases - chemistry | Ossification, Heterotopic - genetics | COS Cells | Joint Instability - complications | Polydactyly - classification | Polydactyly - diagnostic imaging | Dwarfism | Dysplasia | Gene mutations | Development and progression | Genetic aspects | Research | Identification and classification
Journal Article
Journal Article
The Journal of Bone and Joint Surgery, ISSN 0021-9355, 08/2016, Volume 98, Issue 15, pp. 1298 - 1306
BACKGROUND:Polydactyly at the medial side of the foot (“medial polydactyly” of the foot) is a rare and diverse congenital anomaly. In order to plan and... 
SURGERY | TOE | ORTHOPEDICS | THUMB | Radiography | Foot - surgery | Reproducibility of Results | Humans | Female | Infant | Male | Polydactyly - diagnosis | Polydactyly - surgery | Polydactyly - classification | Polydactyly - diagnostic imaging | Foot - diagnostic imaging
Journal Article