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Lista de obras de Anne Philippi

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

artículo científico publicado en 2015

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

artículo científico publicado en 1995

A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus

artículo científico publicado en 1998

A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus

artículo científico publicado en 1995

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

artículo científico publicado en 2007

Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism

artículo científico publicado en 2008

Estimating haplotype relative risks in complex disease from unphased SNPs data in families using a likelihood adjusted for ascertainment.

artículo científico publicado en 2006

Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism

artículo científico publicado en 2005

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease

artículo científico publicado en 2015

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

artículo científico publicado en 2014

On Confidence Intervals for Genotype Relative Risks and Attributable Risks from Case Parent Trio Designs for Candidate-Gene Studies

article

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

artículo científico publicado en 2009

Structural clusters of evolutionary trace residues are statistically significant and common in proteins

scientific article published on 01 February 2002

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

artículo científico publicado en 2017

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