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Gut, ISSN 0017-5749, 08/2016, Volume 65, Issue 8, pp. 1306 - 1313
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 414 - 422
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 02/2013, Volume 97, Issue 2, pp. 169 - 173
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 713 - 730
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is... 
DISEASE GENES | CAENORHABDITIS-ELEGANS | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | OCULO-RENAL SYNDROME | ACTIN CYTOSKELETON | MUTATIONS | CENTROSOMAL PROTEIN | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN | Haplotypes | Humans | Child, Preschool | Infant | Male | Cerebellum - abnormalities | Wnt Proteins - metabolism | Zebrafish - embryology | Case-Control Studies | Gene Knockdown Techniques | Multiprotein Complexes - metabolism | Kidney Diseases, Cystic - genetics | Adult | Bardet-Biedl Syndrome - genetics | Female | Membrane Proteins - metabolism | Child | Infant, Newborn | Wnt Signaling Pathway | Cell Line | Microscopy, Electron, Transmission | Gene Expression | Genetic Association Studies | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Abnormalities, Multiple | Chromosome Mapping | Eye Abnormalities - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Caenorhabditis elegans - ultrastructure | Animals | Cerebellar Diseases - genetics | Retina - abnormalities | Mice | Polymorphism, Single Nucleotide | Mutation | Chromosome mapping | Usage | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Causes of | Genetic aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | Index Medicus | Brain | Gastrulation | Wnt protein | Congenital defects | Etiology | Mapping | Neurodevelopmental disorders | Cilia
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 11/2015, Volume 211, Issue 3, pp. 587 - 604
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2007, Volume 39, Issue 5, pp. 650 - 654
Journal Article
Nature Communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, pp. 11920 - 11920
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes... 
TRANSCRIPTION FACTORS | COLLAGEN | OASIS | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | SITE-1 PROTEASE | IFAP SYNDROME | EXTRACELLULAR-MATRIX | ENDOPLASMIC-RETICULUM STRESS | CLEAVAGE | MISSENSE MUTATIONS | Index Medicus
Journal Article
Journal of Hepatology, ISSN 0168-8278, 09/2011, Volume 55, Issue 3, pp. 734 - 736
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 285 - 293
Journal Article