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365 results
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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D, Douglas AGL. Blakes AJM, et al. Among authors: white sm. Eur J Hum Genet. 2020 Nov 22. doi: 10.1038/s41431-020-00766-w. Online ahead of print. Eur J Hum Genet. 2020. PMID: 33223528
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.
Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, Tan TY, De Paoli-Iseppi R, Clark MB, Christodoulou J, White SM, Thorburn DR, Stroud DA, Stark Z, Simons C. Helman G, et al. Among authors: white sm. Hum Mutat. 2020 Nov 10. doi: 10.1002/humu.24135. Online ahead of print. Hum Mutat. 2020. PMID: 33169436
Modulation of late Pleistocene ENSO strength by the tropical Pacific thermocline.
Rustic GT, Polissar PJ, Ravelo AC, White SM. Rustic GT, et al. Among authors: white sm. Nat Commun. 2020 Oct 23;11(1):5377. doi: 10.1038/s41467-020-19161-6. Nat Commun. 2020. PMID: 33097727 Free PMC article.
Desflurane in modern anaesthetic practice: walking on thin ice(caps)?
Shelton CL, Sutton R, White SM. Shelton CL, et al. Among authors: white sm. Br J Anaesth. 2020 Dec;125(6):852-856. doi: 10.1016/j.bja.2020.09.013. Epub 2020 Oct 7. Br J Anaesth. 2020. PMID: 33039121 No abstract available.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Tan NB, et al. Among authors: white sm. Mol Genet Genomic Med. 2020 Nov;8(11):e1508. doi: 10.1002/mgg3.1508. Epub 2020 Sep 23. Mol Genet Genomic Med. 2020. PMID: 32969205 Free PMC article.
Eco-Epidemiological Uncertainties of Emerging Plant Diseases: The Challenge of Predicting Xylella fastidiosa Dynamics in Novel Environments.
Occhibove F, Chapman DS, Mastin AJ, Parnell SSR, Agstner B, Mato-Amboage R, Jones G, Dunn M, Pollard CRJ, Robinson JS, Marzano M, Davies AL, White RM, Fearne A, White SM. Occhibove F, et al. Among authors: white sm. Phytopathology. 2020 Nov;110(11):1740-1750. doi: 10.1094/PHYTO-03-20-0098-RVW. Epub 2020 Oct 8. Phytopathology. 2020. PMID: 32954988 Free article. Review.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: white sm. Genet Med. 2020 Sep 17. doi: 10.1038/s41436-020-00963-4. Online ahead of print. Genet Med. 2020. PMID: 32939031 Free article.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Among authors: white sm. Genet Med. 2020 Sep 15. doi: 10.1038/s41436-020-00969-y. Online ahead of print. Genet Med. 2020. PMID: 32934366
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, van Bever Y, Molidperee S, Taylor J, Dionne-Laporte A, Sisodiya SM, Hennekam RCM, Campeau PM. Beauregard-Lacroix E, et al. Among authors: white sm. Genet Med. 2020 Sep 2. doi: 10.1038/s41436-020-00950-9. Online ahead of print. Genet Med. 2020. PMID: 32873933 Free article.
Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion.
Akesson LS, Francis D, G de Silva M, Cole T, Simm P, Oliver M, White SM. Akesson LS, et al. Among authors: white sm. J Paediatr Child Health. 2020 Aug 31. doi: 10.1111/jpc.15124. Online ahead of print. J Paediatr Child Health. 2020. PMID: 32866290 No abstract available.
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