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Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.
Congenital hereditary stromal dystrophy of the cornea.
Panstromal Schnyder's corneal dystrophy. Ultrastructural and histochemical studies.
Cholesterol turnover in hereditary crystalline corneal dystrophy of Schnyder.
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
A Peculiar Form of Whooping Cough.
A peculiar case of facial congenital nevus.
Polymorphic stromal dystrophy.
Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
A new polymorphic form of metoprolol succinate.
Autosomal recessive oculopharyngeal muscular dystrophy.
Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy.
A Peculiar Form of Hysteria in the Male.
Recessive congenital myotonia and pregnancy.
Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.
Synovitis of familial mediterranean fever. A histologic and ultrastructural study.
Microcystic corneal dystrophy.
Posterior amorphous corneal dystrophy.
[Corneal dystrophy: Granular dystrophy or Groenouw dystrophy Type 1].
Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
Dermochondral corneal dystrophy (of François).
Congenital hereditary corneal dystrophy: histologic and ultrastructural assessment of a peculiar polymorphic recessive form.
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Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.
Congenital hereditary stromal dystrophy of the cornea.
Panstromal Schnyder's corneal dystrophy. Ultrastructural and histochemical studies.
Cholesterol turnover in hereditary crystalline corneal dystrophy of Schnyder.
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
A Peculiar Form of Whooping Cough.
A peculiar case of facial congenital nevus.
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Objective assessment of the corneal endothelium in Fuchs' endothelial dystrophy.
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