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List of works by Martin P Snead

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss ⬇️

scientific article published on 06 August 2013

Assessing bulk emulsification at the silicone oil - saline solution interface in a 3D model of the eye

scientific article published on 23 July 2020

Auditory dysfunction in type 2 Stickler Syndrome

scientific article published on 08 September 2020

Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA) ⬇️

scientific article published on April 26, 2013

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

scientific article published on 24 June 2020

Microtropia versus bifoveal fixation in anisometropic amblyopia ⬇️

scientific article published on 01 January 1991

Nd:YAG laser treatment for premacular subhyaloid haemorrhage ⬇️

scientific article published on August 1, 2001

Somatic mosaicism and the phenotypic expression of COL2A1 mutations ⬇️

scientific article published on April 11, 2012

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations ⬇️

scientific article published on December 21, 2011

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist ⬇️

scientific article published on September 16, 2011

The optics of fundus examination

scientific article published on May 1, 1992

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