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Ismail K Jalili FRCS, DO, FRCOphth  
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Latest Publications
  Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.

Eye 2010; 24, 1659-1668 (November 2010) doi:10.1038/eye.2010.103

Author's Peers Reviewed Manuscript  htm / pdf

Also see Retinal Ciliopathies: Cone-Rod Ciliopathies anf mutations in Jalili syndrome. htm / pdf

 

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

downloadable pdf via PubMed

Other related publicationms by other authors:

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S.
Ophthalmic Genet. 2011 Jul 5. [Epub ahead of print]
PMID: 21728811 
.
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4
Gómez García I, Oyenarte I, Martínez-Cruz LA.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Mar 1;67(Pt 3):349-53. Epub 2011 Feb 23. PMID: 21393841 
 

Ciliopathies: Tabled List. Jalili IK, htm / pdf

 

Ismail K Jalili 2000-2012