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A mostrar 1 - 20 resultados de 48 para a pesquisa '(( j letter nerve a dos ) OR ((( j genet nerve caused dna ) OR ( c benigno leyva cases de ))))*', tempo de pesquisa: 0.41seg Refinar resultados
Acute abducens nerve palsy in a patient with the novel coronavirus disease (COVID-19)
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
Neurodegeneration associated with genetic defects in phospholipase A(2)

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.
The Neuro-Ophthalmology of Mitochondrial Disease

Distinct variant DNA-binding sites determine cell-specific autoregulated expression of the Drosophila POU domain transcription factor drifter in midline glia or trachea.
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family
SEPT9 Mutations and a Conserved 17q25 Sequence in Sporadic and Hereditary Brachial Plexus Neuropathy

Preclinical therapeutic efficacy of a novel pharmacological inducer of apoptosis in malignant peripheral nerve sheath tumors
Inherited eye-related disorders due to mitochondrial dysfunction

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Characterization of the Cis-Regulatory Region of the Drosophila Homeotic Gene Sex Combs Reduced
Adeno-Associated Virus Transfer of a Gene Encoding SNAP-25 Resistant to Botulinum Toxin A Attenuates Neuromuscular Paralysis Associated with Botulism

Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model
Biological weapons defense infectious disease and counterbioterrorism /

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma

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