A P Read

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the <i>Splotch</i> mouse

M. Tassabehjl, Valerie Newton, Kate E Leverton et al. · Human Molecular Genetics · 1994 · 102 citations

Life Sciences, Genetics, Molecular Genetics +14

Novel Mutations in the 1α-Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood-Derived Macrophages

S J Smith, A Rucka, Jacqueline Berry et al. · Journal of Bone and Mineral Research · 1999 · 94 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas.

Chia-Chun Wu, Nalin Thakker, W Neary et al. · Journal of Medical Genetics · 1998 · 26 citations · Full text

Medicine, Molecular Genetics, Oncology +17

Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)

J. H. Duncan Bassett, A. A. J. Pannett, S. A. Forbes et al. · Human Genetics · 1997 · 19 citations

Medicine, Endocrinology, Molecular Biology +12