Standout Papers

Mutations in a new member of the chromodomain gene family cause CHARGE ... 1997 2026 2006 2016 2.1k
  1. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome (2004)
    Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij et al. Nature Genetics
  2. Congenital leptin deficiency is associated with severe early-onset obesity in humans (1997)
    Elizabeth Montague, I. Sadaf Farooqi et al. Nature

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Works of Jane A. Hurst being referenced

The Holt-Oram syndrome.
1991
Congenital leptin deficiency is associated with severe early-onset obesity in humans
1997 StandoutNature
An extended Family with a Dominantly Inherited Speech Disorder
1990
A forkhead-domain gene is mutated in a severe speech and language disorder
2001 Nature
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
2006
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
2004 Standout
The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder
2000
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
2005
Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
1991
Marrow Distribution in Rat Femurs Determined by Cell Enumeration and Fe59 Labeling.
1963
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