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List of works by Lucas Fares Taie

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

scientific article published on 30 August 2010

Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.

scientific article published in April 2008

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

scientific article published on 25 April 2024

Incomplete penetrance of biallelic ALDH1A3 mutations

scientific article

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

scientific article published on 30 November 2011

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific article

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

Submicroscopic deletions at 13q32.1 cause congenital microcoria

scientific article

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

scientific article published on 13 March 2013

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

scientific article

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