Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms

By Girard Pierre-Marie   Kysela Boris   Härer Christine J.   Doherty Aidan J.   Jeggo Penny A.  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2369-2376

Oxford University Press

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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 438-442

John Wiley & Sons Inc

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Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

By Cideciyan Artur V.  

Human Molecular Genetics, Vol. 13, Iss. 5, 2004-03 ,pp. : 525-534

Oxford University Press

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EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

By McGuigan David B.   Heon Elise   Cideciyan Artur V.   Ratnapriya Rinki   Lu Monica   Sumaroka Alexander   Roman Alejandro J.   Batmanabane Vaishnavi   Garafalo Alexandra V.   Stone Edwin M.   Swaroop Anand   Jacobson Samuel G.  

Genes, Vol. 8, Iss. 7, 2017-07 ,pp. : 178-178

MDPI

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Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

By Marsh K.L.   Dixon J.   Dixon M.J.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1795-1800

Oxford University Press

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