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JAMA, ISSN 0098-7484, 01/2017, Volume 317, Issue 1, pp. 59 - 68
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2016, Volume 90, Issue 6, pp. 526 - 535
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated... 
concomitant mutations | Whole‐exome sequencing | Japanese | Joubert syndrome | Whole-exome sequencing | FRENCH-CANADIANS | CILIOPATHIES | SYNDROME-RELATED DISORDERS | RPGRIP1L | CENTROSOMAL PROTEIN | TRANSITION ZONE | MECKEL-SYNDROME | GENETICS & HEREDITY | DIAGNOSTIC UTILITY | MUTATIONS | CILIOGENESIS | Japan - epidemiology | Eye Abnormalities - diagnostic imaging | Microtubule-Associated Proteins - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Cerebellum - abnormalities | Cerebellum - diagnostic imaging | Abnormalities, Multiple - epidemiology | Kidney Diseases, Cystic - genetics | Female | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - epidemiology | Antigens, Neoplasm - genetics | Kidney Diseases, Cystic - physiopathology | Genetic Predisposition to Disease | Membrane Proteins - genetics | Retina - physiopathology | Eye Abnormalities - epidemiology | Abnormalities, Multiple - diagnostic imaging | Cerebellum - physiopathology | Eye Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Genetic Heterogeneity | Oman - epidemiology | Retina - diagnostic imaging | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Alleles | Retina - abnormalities | Eye Abnormalities - physiopathology | Mutation | Genetic research | Family | Genetic aspects | Gene mutations
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European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 214 - 220
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The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 744 - 753
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by Reynolds, Megan R and Jones, Abbey M and Petersen, Emily E and Lee, Ellen H and Rice, Marion E and Bingham, Andrea and Ellington, Sascha R and Evert, Nicole and Reagan-Steiner, Sarah and Oduyebo, Titilope and Brown, Catherine M and Martin, Stacey and Ahmad, Nina and Bhatnagar, Julu and Macdonald, Jennifer and Gould, Carolyn and Fine, Anne D and Polen, Kara D and Lake-Burger, Heather and Hillard, Christina L and Hall, Noemi and Yazdy, Mahsa M and Slaughter, Karnesha and Sommer, Jamie N and Adamski, Alys and Raycraft, Meghan and Fleck-Derderian, Shannon and Gupta, Jyoti and Newsome, Kimberly and Baez-Santiago, Madelyn and Slavinski, Sally and White, Jennifer L and Moore, Cynthia A and Shapiro-Mendoza, Carrie K and Petersen, Lyle and Boyle, Coleen and Jamieson, Denise J and Meaney-Delman, Dana and Honein, Margaret A and Adair, Jennifer and Ruberto, Irene and Haselow, Dirk T and Im, Lucille and Jilek, Wendy and Lehmann, Monica S and Olney, Richard and Porse, Charsey Cole and Ramstrom, Karen C and Sowunmi, Similoluwa and Marzec, Natalie S and Davis, Karin and Esponda-Morrison, Brenda and Zachariah Fraser, M and O’Connor, Colleen Ann and Chung, Wendy and Richardson, Folasuyi and Sexton, Taylor and Stocks, Meredith E and Woldai, Senait and Bundek, Amanda M and Zambri, Jennifer and Goldberg, Cynthia and Eisenstein, Leah and Jackson, Jennifer and Kopit, Russell and Logue, Teresa and Mendoza, Raphael and Feldpausch, Amanda and Graham, Teri and Mann, Sylvia and Park, Sarah Y and Carter, Kris Kelly and Potts, Emily J and Stevens, Taryn and Simonson, Sean and Tonzel, Julius L and Davis, Shari and Robinson, Sara and Hyun, Judie K and Jenkins, Erin M and Piccardi, Monika and Reid, Lawrence D and Dunn, Julie E and Higgins, Cathleen A and Lin, Angela E and Munshi, Gerlinde S and Sandhu, Kayleigh and Scotland, Sarah J and Soliva, Susan and Copeland, Glenn and Signs, Kimberly A and Schiffman, Elizabeth and Byers, Paul and Hand, Sheryl and Mulgrew, Christine L and Hamik, Jeff and Koirala, Samir and Ludwig, Lisa A and Fredette, Carolyn Rose and Garafalo, Kristin and ... and US Zika Pregnancy Registry and U.S. Zika Pregnancy Registry Collaboration
Morbidity and Mortality Weekly Report, ISSN 0149-2195, 04/2017, Volume 66, Issue 13, pp. 366 - 373
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American Journal of Cardiology, The, ISSN 0002-9149, 2013, Volume 112, Issue 12, pp. 1948 - 1952
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Pediatrics, ISSN 0031-4005, 10/2018, Volume 142, Issue 4, p. e20181104
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