検索結果 - Doherty, Dan

Joubert syndrome: insights into brain development, cilium biology and complex disease 著者: Doherty, Dan

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Physiotherapy compared with advice for low back pain: Study supports concept of self management of pain... 著者: Doherty, Dan

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The genetics of cerebellar malformations 著者: Aldinger, Kimberly A., Doherty, Dan

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Mortality in pediatric hydrocephalus 著者: TULLY, HANNAH M, DOHERTY, DAN, WAINWRIGHT, MARK

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Midbrain-Hindbrain Malformations: Advances in Clinical Diagnosis, Imaging, and Genetics 著者: Doherty, Dan, Millen, Kathleen J., Barkovich, A. James

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Prenatal Diagnosis of Chudley–McCullough Syndrome 著者: Chapman, Teresa, Perez, Francisco A., Ishak, Gisele E., Doherty, Dan

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Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele) 著者: Doherty, Dan, Tsuchiya, Karen D, Mefford, Heather C, Shurtleff, David B

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Is routine preoperative transthoracic echocardiography necessary in newborns with myelomeningocele? 著者: Vernon, Margaret M., Powell, Damien, Schultz, Amy H., Simon, Tamara D., Doherty, Dan

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Eye Movement Abnormalities in Joubert Syndrome 著者: Weiss, Avery H., Doherty, Dan, Parisi, Melissa, Shaw, Dennis, Glass, Ian, Phillips, James O.

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Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage 著者: Tully, Hannah M., Wenger, Tara L., Kukull, Walter A., Doherty, Dan, Dobyns, William B.

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GPSM2 Mutations in Chudley-McCullough Syndrome 著者: Diaz-Horta, Oscar, Sirmaci, Asli, Doherty, Dan, Nance, Walter, Arnos, Kathleen, Pandya, Arti, Tekin, Mustafa

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Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis 著者: Pan, Luyuan, Shah, Arish N, Phelps, Ian G, Doherty, Dan, Johnson, Eric A, Moens, Cecilia B

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Genetic and Phenotypic Heterogeneity in KIAA0753-related Ciliopathies 著者: Inskeep, Katherine A., Zarate, Yuri A., Monteil, Danielle, Spranger, Jurgen, Doherty, Dan, Stottmann, Rolf W., Weaver, K. Nicole

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The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking 著者: Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Stearns, George, Link, Brian A., Brockerhoff, Susan E., Moens, Cecilia B., Doherty, Dan

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Risk factors for post-hemorrhagic hydrocephalus among infants with intraventricular hemorrhage 著者: Tully, Hannah M, Traudt, Christopher M, Rue, Tessa, Oron, Assaf P, Simon, Tamara D, Kukull, Walter A, Doherty, Dan

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicit... 著者: Phelps, Ian G., Dempsey, Jennifer C., Grout, Megan E., Isabella, Christine R., Tully, Hannah M., Doherty, Dan, Bachmann-Gagescu, Ruxandra

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Rhombencephalosynapsis: Fused cerebellum, confused geneticists 著者: Aldinger, Kimberly A., Dempsey, Jennifer C., Tully, Hannah M., Grout, Megan E., Mehaffey, Michele G., Dobyns, William B., Doherty, Dan

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Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome 著者: Shi, Xiaoyu, Garcia, Galo, Van De Weghe, Julie C., McGorty, Ryan, Pazour, Gregory J., Doherty, Dan, Huang, Bo, Reiter, Jeremy F.

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236 children with developmental hydrocephalus: causes and clinical consequences 著者: Tully, Hannah M, Ishak, Gisele E, Rue, Tessa C, Dempsey, Jennifer C, Browd, Samuel R, Millen, Kathleen J, Doherty, Dan, Dobyns, William B

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Rescuing human fetal tissue research in the United States: A call for additional regulatory reform 著者: MacDuffie, Katherine E., Hyun, Insoo, Krogen, Michaela M., Dempsey, Jennifer C., Murry, Charles E., Copp, Andrew J., Glass, Ian A., Doherty, Dan

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