Joanna M Walker

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

W. Miller, R. Soccio, J. Achermann, 2010, The Journal of clinical endocrinology and metabolism.

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

W. Miller, R. Soccio, J. Achermann, 2010 .

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

T. Prescott, F. Rezwan, D. Mackay, 2014, European Journal of Human Genetics.

Duplication of 7 p 12 . 1p 13 , including GRB 10 and IGFBP 1 , in a mother and daughter with features of Silver-Russell syndrome

A. Sharp, I. Temple, Joanna M Walker, 2022 .

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

K. Lachlan, R. González-Sarmiento, Cintia E. Citterio, 2013, Molecular and Cellular Endocrinology.

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

E. Puelles, M. Dattani, D. Gerrelli, 2011, The Journal of clinical endocrinology and metabolism.

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

K. Lachlan, R. González-Sarmiento, J. Weill, 2022, Endocrine.

Repeated cytogenetic culture failure as an indicator of immunodeficiency

J. Barber, Joanna M Walker, R. Hallett, 1996, The Lancet.

Sirolimus precipitating diabetes mellitus in a patient with congenital hyperinsulinaemic hypoglycaemia due to autosomal dominant ABCC8 mutation

K. Hussain, Joanna M Walker, M. Güemes, 2017, Journal of pediatric endocrinology & metabolism : JPEM.