(Q28181227)

12 December 2020

Congenital muscular dystrophy: a review of the literature

1 reference

12 December 2020

[Congenital fibrosis of thr ocular muscles: a diagnosis for several clinical pictures]

1 reference

12 December 2020

Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

1 reference

12 December 2020

Vermian agenesis and unsegmented midbrain tectum. Case report

1 reference

12 December 2020

[Clinical and electrophysiological study of 2 familial cases of Marcus Gunn phenomenon]

1 reference

12 December 2020

Joubert syndrome: a review

1 reference

12 December 2020

Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis.

1 reference

12 December 2020

Hereditary external ophthalmoplegia synergistic divergence, jaw winking, and oculocutaneous hypopigmentation: a congenital fibrosis syndrome caused by deficient innervation to extraocular muscles

1 reference

12 December 2020

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

1 reference

12 December 2020

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

1 reference

12 December 2020

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis

1 reference

12 December 2020

Clinicopathological findings associated with agenesis of the corpus callosum.

1 reference

12 December 2020

Elevation of one eye during tooth brushing.

1 reference

12 December 2020

Guidelines for calibration of stimulus and recording parameters used in clinical electrophysiology of vision. Calibration Standard Committee of the International Society for Clinical Electrophysiology of Vision (ISCEV).

1 reference

12 December 2020

Joubert's syndrome, ocular fibrosis, and normal histidine levels.

1 reference

12 December 2020

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

1 reference

12 December 2020

Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis

1 reference

12 December 2020

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

1 reference

12 December 2020

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia

1 reference

12 December 2020

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

1 reference

12 December 2020

Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a

1 reference

12 December 2020

Familial Marcus Gunn phenomenon

1 reference

12 December 2020

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

1 reference

12 December 2020

Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

1 reference

12 December 2020