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A mostrar 1 - 20 resultados de 49 para a pesquisa '(( i cent nerve system dcs ) OR ( j genet nerve case due ))*', tempo de pesquisa: 0.57seg Refinar resultados
Clinical Findings and Genetic Expression Profiling of Three Pigmented Lesions of the Optic Nerve
Congenital anomalies of the optic nerve

Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (Collie Eye Anomaly mutation)
Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Synovial sarcoma of the spine: A report of three cases and review of the literature
Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation

Metachondromatosis: more than just multiple osteochondromas
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history

Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology
Surgical treatment in a patient with Klippel–Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature

DISTAL MYOPATHIES
Axonal degeneration in peripheral nerves in a case of Leber’s Hereditary Optic Neuropathy

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
Adenosine monophosphate-activated protein kinase (AMPK) activators for the prevention, treatment and potential reversal of pathological pain

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

Facial nerve paralysis in children
Disorders of the lower cranial nerves

PATH-07. FAMILIAL MELANOMA-ASTROCYTOMA SYNDROME: SYNCHRONOUS DIFFUSE ASTROCYTOMA AND PLEOMORPHIC XANTHOASTROCYTOMA IN A PATIENT WITH GERMLINE CDKN2A/B DELETION AND A SIGNIFICANT FAMILY HISTORY
The Prevalence and Natural History of Dominant Optic Atrophy due to OPA1 Mutations

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