Pamela Tomlin

Hyper IgD syndrome (HIDS) associated with <i>in vitro</i> evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

Peter D. Arkwright, Michael McDermott, Sander M. Houten et al. · Clinical & Experimental Immunology · 2002 · 69 citations · Full text

Life Sciences, Genetics, Immunology +14

Social cognition in children with epilepsy in mainstream education

Adina R. Lew, Charlie Lewis, Judith Lunn et al. · Developmental Medicine & Child Neurology · 2014 · 47 citations · Full text

Education, Psychology, Special Education +16

Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy

Christian GEL de Goede, Anna Kelsey, Helen Kingston et al. · Developmental Medicine & Child Neurology · 2005 · 18 citations

Medicine, Genetics, Molecular Genetics +16

Kohlschutter syndrome in siblings

Dian Donnai, Pamela Tomlin, Rachel Winter · Clinical Dysmorphology · 2005 · 16 citations

Dentistry, Craniofacial Biology, Pediatrics +17

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Helen Kingston, David H. Ledbetter, Pamela Tomlin et al. · Journal of Medical Genetics · 1996 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17