Items where authors include "Brady, A.F."

Article

Sabanathan, S., Gulhane, D., Mankad, K. et al. (10 more authors) (2022) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders. ISSN 0960-8966

Lepperdinger, U., Angwin, C., Milnes, D. et al. (12 more authors) (2022) Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome. Journal of Clinical Periodontology. ISSN 0303-6979

Williams, S.T., Chatzikyriakou, P., Carroll, P.V. et al. (34 more authors) (2022) SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series. Clinical Endocrinology, 96 (4). pp. 499-512. ISSN 0300-0664

Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20 (1). pp. 42-54. ISSN 1098-3600

Buonocore, F., Kuehnen, P., Suntharalingham, J.P. et al. (24 more authors) (2017) Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. JOURNAL OF CLINICAL INVESTIGATION, 127 (5). pp. 1700-1713. ISSN 0021-9738

Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036