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Search Results to Eric T. Rush

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Rush, Eric

One or more keywords matched the following items that are connected to Rush, Eric

Item Type	Name
Concept	Ellis-Van Creveld Syndrome
Concept	Tourette Syndrome
Concept	Long QT Syndrome
Concept	Syndrome
Concept	Zellweger Syndrome
Concept	Neurocutaneous Syndromes
Concept	Hermanski-Pudlak Syndrome
Academic Article	Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.
Academic Article	Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article	Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
Academic Article	Low bone mineral density is a common feature of Zellweger spectrum disorders.
Academic Article	Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Academic Article	Tourette syndrome, obsessive compulsive behavior, and dysmorphic features in a patient with deletions at chromosome 18q22.1 and chromosome 13q12.3-q13.1.
Academic Article	Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition?
Academic Article	A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Academic Article	Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
Academic Article	Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Academic Article	Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.
Academic Article	Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Academic Article	A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
Academic Article	Gender dysphoria in adolescents with Ehlers-Danlos syndrome.
Academic Article	Development of a Multidisciplinary Clinic for Patients with Ehlers Danlos Syndromes: Considerations and Strategies.
Academic Article	Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

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Syndrome