Joanna Walker

Novel<i>FGF8</i>Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

Mark J. McCabe, Carles Gaston‐Massuet, Vaitsa Tziaferi et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

Taninee Sahakitrungruang, Raymond E. Soccio, Mariarosaria Lang‐Muritano et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 89 citations · Full text

Life Sciences, Endocrinology, Genetics +17

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Cintia E. Citterio, Gloria A. Machiavelli, Mirta Miras et al. · Molecular and Cellular Endocrinology · 2012 · 35 citations · Full text

Medicine, Endocrinology, Molecular Genetics +14

IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration

Wolfgang Högler, David Martín, Nicola Crabtree et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 32 citations · Full text

Medicine, Clinical Pharmacokinetics, Pharmacokinetics +17

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Faisal I. Rezwan, Rebecca Poole, Trine Prescott et al. · European Journal of Human Genetics · 2014 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17