Search Results - "Burkitt-Wright, Emma"

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience.

Authors: Molina‐Ramírez, Leslie P. Burkitt‐Wright, Emma MM. Saeed, Haroon et al.

Source: Clinical Otolaryngology. Nov2021, Vol. 46 Issue 6, p1257-1262. 6p.

The 9th International RASopathies Symposium.

Authors: Castel, Pau Schoyer, Lisa Stronach, Beth et al.

Source: American Journal of Medical Genetics. Part A; Aug2026, Vol. 200 Issue 8, p1934-1941, 8p

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature.

Authors: Madenidou, Anastasia‐Vasiliki Rice, Gillian I. O'Sullivan, James et al.

Source: American Journal of Medical Genetics. Part A; May2026, Vol. 200 Issue 5, p1091-1097, 7p

Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1.

Authors: Pobric, Gorana Taylor, Jason R. Ramalingam, Hemavathy M. et al.

Source: Journal of Autism & Developmental Disorders. Apr2022, Vol. 52 Issue 4, p1478-1494. 17p. 2 Color Photographs, 3 Charts, 4 Graphs.

Subjects: Neural transmission, Electroencephalography, Cognition, Electrophysiology, Comparative studies, Memory disorders, Neurofibromatosis 1

Brittle cornea syndrome: current perspectives.

Authors: Walkden, Andrew Burkitt-Wright, Emma Au, Leon

Source: Clinical Ophthalmology. Aug2019, Vol. 13, p1511-1516. 6p.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Authors: Pierpont, Elizabeth I. Bennett, Anton M. Schoyer, Lisa et al.

Source: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-11, 11p

Developmental trajectories in infants and pre-school children with Neurofibromatosis 1.

Authors: Slevin, Hannah Kehinde, Fiona Begum-Ali, Jannath et al.

Source: Molecular Autism. 10/15/2024, Vol. 15 Issue 1, p1-16. 16p.

Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood.

Authors: Carter Leno, Virginia Begum-Ali, Jannath Goodwin, Amy et al.

Source: Molecular Autism. 12/8/2022, Vol. 13 Issue 1, p1-13. 13p.

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019.

Authors: Collins‐Sawaragi, Yoshua Colyn Ferner, Rosalie Vassallo, Grace et al.

Source: American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1723-1727, 5p

The sixth international RASopathies symposium: Precision medicine—From promise to practice.

Authors: Gripp, Karen W. Schill, Lisa Schoyer, Lisa et al.

Source: American Journal of Medical Genetics. Part A; Mar2020, Vol. 182 Issue 3, p597-606, 10p

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Authors: Burkitt Wright, Emma M. M. Porter, Louise F. Spencer, Helen L. et al.

Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-11. 11p. 1 Color Photograph, 2 Diagrams, 2 Charts, 1 Graph.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Authors: Clayton-Smith, Jill Walters, Sarah Hobson, Emma et al.

Source: European Journal of Human Genetics. Apr2009, Vol. 17 Issue 4, p434-443. 10p. 2 Black and White Photographs, 2 Charts.

Abstracts.

Source: Hormone research in pædiatrics 2021 Supplement; Vol. 94.

Journal Info: Publisher: Karger AG ISSN: 1663-2818