Mawby R - Search Results

1

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

Gazdagh G, Mawby R, Self JE, Baralle D; Deciphering Developmental Disorders Study. Gazdagh G, et al. Among authors: mawby r. Am J Med Genet A. 2022 Mar;188(3):900-906. doi: 10.1002/ajmg.a.62569. Epub 2021 Nov 17. Am J Med Genet A. 2022. PMID: 34787370

2

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.

Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. Barbosa S, et al. Among authors: mawby r. Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109419 Free PMC article.

3

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Genet Med. 2020 Jun;22(6):1129. doi: 10.1038/s41436-020-0789-2. Genet Med. 2020. PMID: 32235935 Free PMC article.

4

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.

5

Use of the tetrahydroborate ligand as "gate-keeper" and protected hydride ligand: preparation and study of alkyl hydride and acyl hydride complexes of ruthenium(II).

Duckett SB, Lowe JP, Mawby RJ. Duckett SB, et al. Among authors: mawby rj. Dalton Trans. 2006 Jun 14;(22):2661-70. doi: 10.1039/b600036c. Epub 2006 Mar 6. Dalton Trans. 2006. PMID: 16804578

6

Roles of a tetrahydroborate ligand in a facile route to ruthenium(II) ethyl hydride complexes, and a kinetic study of ethane reductive elimination.

Duckett SB, Lowe JC, Lowe JP, Mawby RJ. Duckett SB, et al. Among authors: mawby rj. Dalton Trans. 2004 Nov 7;(21):3788-97. doi: 10.1039/b411600c. Epub 2004 Oct 12. Dalton Trans. 2004. PMID: 15510307

7

The reaction of M(CO)3(Ph2PCH2CH2PPh2)(M = Fe, Ru) with parahydrogen: probing the electronic structure of reaction intermediates and the internal rearrangement mechanism for the dihydride products.

Schott D, Callaghan P, Dunne J, Duckett SB, Godard C, Goicoechea JM, Harvey JN, Lowe JP, Mawby RJ, Müller G, Perutz RN, Poli R, Whittlesey MK. Schott D, et al. Among authors: mawby rj. Dalton Trans. 2004 Oct 21;(20):3218-24. doi: 10.1039/B407457B. Epub 2004 Aug 25. Dalton Trans. 2004. PMID: 15483704

8

Ruthenium dihydride complexes: NMR studies of intramolecular isomerization and fluxionality including the detection of minor isomers by parahydrogen-induced polarization.

Schott D, Sleigh CJ, Lowe JP, Duckett SB, Mawby RJ, Partridge MG. Schott D, et al. Among authors: mawby rj. Inorg Chem. 2002 Jun 3;41(11):2960-70. doi: 10.1021/ic011255w. Inorg Chem. 2002. PMID: 12033906

9

University-based public service.

Mawby RG. Mawby RG. Science. 1987 Dec 11;238(4833):1491. doi: 10.1126/science.238.4833.1491. Science. 1987. PMID: 17784274 No abstract available.

10

The importance of research for Logo.

Mawby R. Mawby R. Am Ann Deaf. 1985 Nov;130(5):470-8. doi: 10.1353/aad.2012.0854. Am Ann Deaf. 1985. PMID: 3913323 No abstract available.

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