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Psychosomatics|March 31, 2012
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?Sandra Rackley, Maryland Pao, Guillermo F Seratti, et al.
British Journal of Haematology|May 30, 2013
Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromesBlanche P Alter, Philip S Rosenberg, Thomas Day, et al.
Pediatric Research|March 24, 2022
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical featuresAshley S Thompson, Neelam Giri, D Matthew Gianferante, et al.
International Journal of Cancer|April 6, 2013
Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirusBlanche P Alter, Neelam Giri, Sharon A Savage, et al.
Human Genetics|January 19, 2013
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaBari J Ballew, Meredith Yeager, Kevin Jacobs, et al.
American Journal of Medical Genetics. Part A|November 23, 2015
Novel FANCI mutations in Fanconi anemia with VACTERL associationSharon A Savage, Bari J Ballew, Neelam Giri, et al.
Retinal Cases & Brief Reports|November 13, 2014
Proliferative retinopathy as a complication of dyskeratosis congenitaJohn O Mason, Jacob J Yunker, Peter A Nixon, et al.
Ejhaem|December 18, 2024
Genotype-phenotype associations in individuals with Diamond Blackfan anaemiaD Matthew Gianferante, Kyra J W Mendez, Sarah Cole, et al.
Neurology. Genetics|December 25, 2019
CNS manifestations in patients with telomere biology disordersSonia Bhala, Ana F Best, Neelam Giri, et al.
British Journal of Haematology|December 21, 2012
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemiaJohn H Fargo, Christian P Kratz, Neelam Giri, et al.
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