Suchergebnisse - "Gupta, Prateek"

PubPharm (5)

1

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations

enthalten in: European journal of medical genetics | 2010

von Villamizar, C. | Regalado, E. | Fadulu, V. | +12

2

The FBN2 gene : new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

enthalten in: Human mutation | 2009

von Frédéric, M. | Monino, C. | Marschall, C. | +15

3

An FBN1 pseudoexon mutation in a patient with Marfan syndrome : confirmation of cryptic mutations leading to disease

enthalten in: Journal of human genetics | 2008

von Guo, D. | Gupta, P. | Tran-Fadulu, V. | +4

4

High throughput detection of small genomic insertions or deletions by Pyrosequencing

enthalten in: Biotechnology letters | 2003

von Guo, D. | Qi, Y. | He, R. | +2

5

Ten novel FBN2 mutations in congenital contractural arachnodactyly : delineation of the molecular pathogenesis and clinical phenotype

enthalten in: Human mutation | 2002

von Gupta, P. | Putnam, E. | Carmical, S. | +11

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