Search Results - "Burkitt-Wright, Emma"

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

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 and Developmental Disorders. Apr 2022 52(4):1478-1494.

Peer Reviewed: Y

Page Count: 17

Descriptors: Short Term Memory, Neurological Impairments, Genetic Disorders, Adolescents, Cognitive Processes, Medicine

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

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 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

Brittle cornea syndrome: current perspectives.

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

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

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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

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.

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

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A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.

Authors: Parsons, Samuel J. H. Wright, Neville B. Burkitt‐Wright, Emma et al.

Source: American Journal of Medical Genetics. Part A; Aug2017, Vol. 173 Issue 8, p2261-2267, 7p

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Authors: Stevenson, David A. Schill, Lisa Schoyer, Lisa et al.

Source: American Journal of Medical Genetics. Part A; Aug2016, Vol. 170A Issue 8, p1959-1966, 8p

Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.

Authors: Rauen, Katherine A. Huson, Susan M. Burkitt‐Wright, Emma et al.

Source: American Journal of Medical Genetics. Part A; Jan2015, Vol. 167A Issue 1, p1-10, 10p

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Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Authors: Burkitt-Wright, Emma M.M. Bradley, Lisa Shorto, Jennifer et al.

Source: American Journal of Medical Genetics. Part A; May2012, Vol. 158A Issue 5, p1102-1110, 9p

Doctors'communication of trust,care,and respect in breast cancer:qualitative study.

Authors: Burkitt Wright, Emma Holcombe, Christopher Salmon, Peter

Source: BMJ: British Medical Journal (International Edition). 4/10/2004, Vol. 328 Issue 7444, p864-867. 4p.

Neurogenetics 'What do I do now?' series.

Authors: Burkitt Wright, Emma¹

Source: European Journal of Human Genetics. Nov2015, Vol. 23 Issue 11, p1590-1590. 1p.

European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.

Authors: García-Miñaúr, Sixto Burkitt-Wright, Emma Verloes, Alain et al.

Source: European Journal of Medical Genetics. Jan2022, Vol. 65 Issue 1, pN.PAG-N.PAG. 1p.

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.