Items where authors include "Ghali, N"

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Number of items: 6.

Article

Vezyroglou, A, Akilapa, R, Barwick, K et al. (26 more authors) (2022) The phenotypic continuum of ATP1A3-related disorders. Neurology, 99 (14). e1511-e1526. ISSN 1526-632X

Schrander, DE, Staal, HM, Johnson, CA orcid.org/0000-0002-2979-8234 et al. (4 more authors) (2022) Orthopaedic Aspects of SAMS Syndrome. Journal of Pediatric Genetics, 11 (1). pp. 51-58. ISSN 2146-4596

Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836

McRae, JF, Clayton, S, Fitzgerald, TW et al. (298 more authors) (2016) Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study. bioRxiv. (Submitted)

This list was generated on Sat Mar 23 18:11:32 2024 GMT.