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Paper Details

Defective ciliogenesis in INPP5E-related Joubert syndrome.
Am J Med Genet A
19
2017
C, Gly552Ala, INPP5E, Joubert syndrome, Joubert syndrome type 1, NM_019892.4:, apnea, ataxia, c.1565G, chorioretinal colobomas, derived fibroblasts, developmental delay, fibroblasts, hepatorenal fibrocystic disease, hypotonia, inositol polyphosphate, inositol polyphosphate 5-phosphatase E, mRNA, malformation of the mid and hindbrain, neurodevelopmental disorder, ocular motor apraxia, patient, patient-, patients, polydactyly, retinal dystrophy, tachypnea
Author NameAffiliation
Ariane SoldatosNational Human Genome Research Institute, National Institutes of Health
Mariska DavidsNational Human Genome Research Institute, National Institutes of Health
Mariska DavidsNational Human Genome Research Institute, National Institutes of Health
Camilo ToroNational Human Genome Research Institute, National Institutes of Health
Camilo ToroOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Carlos R FerreiraOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Michele NehrebeckyNational Human Genome Research Institute, National Institutes of Health
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases
Ellen MacnamaraNational Human Genome Research Institute, National Institutes of Health
Ellen MacnamaraOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanNational Human Genome Research Institute, National Institutes of Health
May Christine V MalicdanOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
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