Ann‐Marie Differ

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

J. Helen Cross, Ruchi Arora, Rolf A. Heckemann et al. · Developmental Medicine & Child Neurology · 2013 · 62 citations · Full text

Medicine, Neurology, Neuroscience +17

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

Priya Landa, Ann‐Marie Differ, Kaukab Rajput et al. · BMC Medical Genetics · 2013 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

Sophie Parrock, Sofia Hussain, Naomi Issler et al. · Nephron Physiology · 2013 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Evaluation of genotype–phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome

Lip Min Soh, Maralyn Druce, Ashley Grossman et al. · European Journal of Endocrinology · 2014 · 15 citations

Life Sciences, Endocrinology, Genetics +14