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

Autor Doherty, Dan
Vydáno 2004

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

Autor Doherty, Dan
Vydáno 2009

The genetics of cerebellar malformations

Autor Aldinger, Kimberly A., Doherty, Dan
Vydáno v Semin Fetal Neonatal Med (2016)

Midbrain-Hindbrain Malformations: Advances in Clinical Diagnosis, Imaging, and Genetics

Autor Doherty, Dan, Millen, Kathleen J., Barkovich, A. James
Vydáno 2013

Prenatal Diagnosis of Chudley–McCullough Syndrome

Autor Chapman, Teresa, Perez, Francisco A., Ishak, Gisele E., Doherty, Dan
Vydáno v Am J Med Genet A (2016)

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele)

Autor Doherty, Dan, Tsuchiya, Karen D, Mefford, Heather C, Shurtleff, David B
Vydáno 2010

Is routine preoperative transthoracic echocardiography necessary in newborns with myelomeningocele?

Autor Vernon, Margaret M., Powell, Damien, Schultz, Amy H., Simon, Tamara D., Doherty, Dan
Vydáno v J Perinatol (2015)

Eye Movement Abnormalities in Joubert Syndrome

Autor Weiss, Avery H., Doherty, Dan, Parisi, Melissa, Shaw, Dennis, Glass, Ian, Phillips, James O.
Vydáno 2009

Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage

Autor Tully, Hannah M., Wenger, Tara L., Kukull, Walter A., Doherty, Dan, Dobyns, William B.
Vydáno v Neurosurg Focus (2016)

GPSM2 Mutations in Chudley-McCullough Syndrome

Autor Diaz-Horta, Oscar, Sirmaci, Asli, Doherty, Dan, Nance, Walter, Arnos, Kathleen, Pandya, Arti, Tekin, Mustafa
Vydáno 2012

Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis

Autor Pan, Luyuan, Shah, Arish N, Phelps, Ian G, Doherty, Dan, Johnson, Eric A, Moens, Cecilia B
Vydáno v BMC Genomics (2015)

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

Autor Bachmann-Gagescu, Ruxandra, Phelps, Ian G., Stearns, George, Link, Brian A., Brockerhoff, Susan E., Moens, Cecilia B., Doherty, Dan
Vydáno 2011

Risk factors for post-hemorrhagic hydrocephalus among infants with intraventricular hemorrhage

Autor Tully, Hannah M, Traudt, Christopher M, Rue, Tessa, Oron, Assaf P, Simon, Tamara D, Kukull, Walter A, Doherty, Dan
Vydáno v Fluids Barriers CNS (2015)

Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicit...

Autor Phelps, Ian G., Dempsey, Jennifer C., Grout, Megan E., Isabella, Christine R., Tully, Hannah M., Doherty, Dan, Bachmann-Gagescu, Ruxandra
Vydáno v Genet Med (2017)

Rhombencephalosynapsis: Fused cerebellum, confused geneticists

Autor Aldinger, Kimberly A., Dempsey, Jennifer C., Tully, Hannah M., Grout, Megan E., Mehaffey, Michele G., Dobyns, William B., Doherty, Dan
Vydáno v Am J Med Genet C Semin Med Genet (2018)

Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome

Autor Shi, Xiaoyu, Garcia, Galo, Van De Weghe, Julie C., McGorty, Ryan, Pazour, Gregory J., Doherty, Dan, Huang, Bo, Reiter, Jeremy F.
Vydáno v Nat Cell Biol (2017)

236 children with developmental hydrocephalus: causes and clinical consequences

Autor Tully, Hannah M, Ishak, Gisele E, Rue, Tessa C, Dempsey, Jennifer C, Browd, Samuel R, Millen, Kathleen J, Doherty, Dan, Dobyns, William B
Vydáno v J Child Neurol (2015)

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Autor Noor, Abdul, Windpassinger, Christian, Patel, Megha, Stachowiak, Beata, Mikhailov, Anna, Azam, Matloob, Irfan, Muhammad, Paterson, Andrew D., Lutufullah, Muhammad, Doherty, Dan, Vincent, John B., Ayub, Muhammad
Vydáno 2008

The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions

Autor Tuz, Karina, Hsiao, Yi-Chun, Juárez, Oscar, Shi, Bingxing, Harmon, Erin Y., Phelps, Ian G., Lennartz, Michelle R., Glass, Ian A., Doherty, Dan, Ferland, Russell J.
Vydáno 2013

Persistent figure-8 and side-to-side head shaking is a marker for rhombencephalosynapsis

Autor Tully, Hannah M, Dempsey, Jennifer C, Ishak, Gisele E, Adam, Margaret P, Mink, Jonathan W, Dobyns, William B, Gospe, Sidney M, Weiss, Avery, Phillips, James O, Doherty, Dan
Vydáno v Mov Disord (2013)