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

ανά Doherty, Dan
Έκδοση 2004

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

ανά Doherty, Dan
Έκδοση 2009

The genetics of cerebellar malformations

ανά Aldinger, Kimberly A., Doherty, Dan
Τόπος έκδοσης Semin Fetal Neonatal Med (2016)

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

ανά Doherty, Dan, Millen, Kathleen J., Barkovich, A. James
Έκδοση 2013

Prenatal Diagnosis of Chudley–McCullough Syndrome

ανά Chapman, Teresa, Perez, Francisco A., Ishak, Gisele E., Doherty, Dan
Τόπος έκδοσης Am J Med Genet A (2016)

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele)

ανά Doherty, Dan, Tsuchiya, Karen D, Mefford, Heather C, Shurtleff, David B
Έκδοση 2010

Is routine preoperative transthoracic echocardiography necessary in newborns with myelomeningocele?

ανά Vernon, Margaret M., Powell, Damien, Schultz, Amy H., Simon, Tamara D., Doherty, Dan
Τόπος έκδοσης J Perinatol (2015)

Eye Movement Abnormalities in Joubert Syndrome

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

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

ανά Tully, Hannah M., Wenger, Tara L., Kukull, Walter A., Doherty, Dan, Dobyns, William B.
Τόπος έκδοσης Neurosurg Focus (2016)

GPSM2 Mutations in Chudley-McCullough Syndrome

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

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

ανά Pan, Luyuan, Shah, Arish N, Phelps, Ian G, Doherty, Dan, Johnson, Eric A, Moens, Cecilia B
Τόπος έκδοσης BMC Genomics (2015)

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

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

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

ανά Tully, Hannah M, Traudt, Christopher M, Rue, Tessa, Oron, Assaf P, Simon, Tamara D, Kukull, Walter A, Doherty, Dan
Τόπος έκδοσης 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...

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

Rhombencephalosynapsis: Fused cerebellum, confused geneticists

ανά Aldinger, Kimberly A., Dempsey, Jennifer C., Tully, Hannah M., Grout, Megan E., Mehaffey, Michele G., Dobyns, William B., Doherty, Dan
Τόπος έκδοσης 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

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

236 children with developmental hydrocephalus: causes and clinical consequences

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

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

ανά 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
Έκδοση 2008

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

ανά 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.
Έκδοση 2013

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

ανά 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
Τόπος έκδοσης Mov Disord (2013)