H Frye‐Boukhriss

Familial thrombocytosis caused by the novel germ‐line mutation p.Pro106Leu in the <i>MPL</i> gene

El-Harith A. el-HA. El-Harith, Cornelia Roesl, Matthias Ballmaier et al. · British Journal of Haematology · 2008 · 77 citations

Life Sciences, Genetics, Hematology +15

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21‐q23

Manfred Stuhrmann, HC Hennies, Kai Brakensiek et al. · Clinical Genetics · 2008 · 62 citations

Life Sciences, Dermatology, Genetics +14

Detection of a significant association between mutations in the <i>ACVRL1 </i>gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

Kai Brakensiek, H Frye‐Boukhriss, Madeleine Mälzer et al. · Clinical Genetics · 2008 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families

Stephanie Schubert, Tim Ripperger, Melanie Rood et al. · Genes & Cancer · 2017 · 16 citations · Full text

Life Sciences, Genetics, Oncology +13