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Molecular Vision|July 1, 2008
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian originVanita Vanita, Jai Rup Singh, Daljit Singh, et al.
Molecular Vision|March 13, 2008
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian originVanita Vanita, Jai Rup Singh, Daljit Singh, et al.
Cytometry. Part B, Clinical Cytometry|September 30, 2016
Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicineNele Schnipper, Hans H Stassen, Tilmann Kallinich, et al.
Oncology Reports|June 18, 2002
Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinomaRaymonda Varon, Sandrine Gosse-Brun, Yves-Jean Bignon, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyVanita Vanita, Daljit Singh, Peter N Robinson, et al.
Plos One|November 10, 2010
The LARGE principle of cellular reprogramming: lost, acquired and retained gene expression in foreskin and amniotic fluid-derived human iPS cellsKatharina Wolfrum, Ying Wang, Alessandro Prigione, et al.
International Journal of Cancer|September 26, 2006
Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutationJan Steffen, Galina Maneva, Lidia Popławska, et al.
Molecular Vision|September 26, 2007
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian familyKamlesh Guleria, Karl Sperling, Daljit Singh, et al.
Leukemia & Lymphoma|January 24, 2004
Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypesRaymonda Varon, Claudia Schoch, André Reis, et al.
Genetic Testing and Molecular Biomarkers|March 25, 2009
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian originVanita Vanita, Karl Sperling, Hardas Singh Sandhu, et al.
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