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Items: 1 to 50 of 394

1.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study, Parker MJ, Tatton-Brown K.

Am J Med Genet A. 2019 Jan 13. doi: 10.1002/ajmg.a.61024. [Epub ahead of print]

PMID:
30637921
2.

Insights into the biochemistry, evolution, and biotechnological applications of the ten-eleven translocation (TET) enzymes.

Saleh L, Parker MJ, Weigele PR.

Biochemistry. 2018 Dec 20. doi: 10.1021/acs.biochem.8b01185. [Epub ahead of print]

PMID:
30571101
3.

Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype.

Kanani F, Parker MJ, Burren CP, Rankin J, Balasubramanian M.

Am J Med Genet A. 2018 Dec 17. doi: 10.1002/ajmg.a.60680. [Epub ahead of print] No abstract available.

PMID:
30556288
4.

Management and outcome of the dislocated hip hemiarthroplasty.

Gill JR, Kiliyanpilakkill B, Parker MJ.

Bone Joint J. 2018 Dec;100-B(12):1618-1625. doi: 10.1302/0301-620X.100B12.BJJ-2018-0281.R1.

PMID:
30499311
5.

The performance of the European League Against Rheumatism/American College of Rheumatology idiopathic inflammatory myopathies classification criteria in an expert-defined 10 year incident cohort.

Parker MJS, Oldroyd A, Roberts ME, Lilleker JB, Betteridge ZE, McHugh NJ, Herrick AL, Cooper RG, Chinoy H.

Rheumatology (Oxford). 2018 Nov 28. doi: 10.1093/rheumatology/key343. [Epub ahead of print]

PMID:
30496561
6.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
7.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.

Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8.

PMID:
30295347
8.

Does a fixed offset hemiarthroplasty implant have any effect on pain and function in patients with a femoral neck fracture?

Akinola B, Collins R, Sim FCJ, Parker MJ.

Injury. 2018 Aug;49(8):1577-1580. doi: 10.1016/j.injury.2018.05.016. Epub 2018 May 26.

PMID:
29885962
9.

What Goes Up, Must Go Down?

Parker MJ.

Pediatr Crit Care Med. 2018 Jun;19(6):579-581. doi: 10.1097/PCC.0000000000001543. No abstract available.

PMID:
29863640
10.

An endogenous dAMP ligand in Bacillus subtilis class Ib RNR promotes assembly of a noncanonical dimer for regulation by dATP.

Parker MJ, Maggiolo AO, Thomas WC, Kim A, Meisburger SP, Ando N, Boal AK, Stubbe J.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):E4594-E4603. doi: 10.1073/pnas.1800356115. Epub 2018 Apr 30.

11.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

12.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31.

13.

Genomics for paediatricians: promises and pitfalls.

Hammond CL, Willoughby JM, Parker MJ.

Arch Dis Child. 2018 Sep;103(9):895-900. doi: 10.1136/archdischild-2017-314558. Epub 2018 Mar 24. Review.

PMID:
29574410
14.

Autoimmune fasciitis triggered by the anti-programmed cell death-1 monoclonal antibody nivolumab.

Parker MJ, Roberts ME, Lorigan PC, du Plessis DG, Chinoy H.

BMJ Case Rep. 2018 Feb 8;2018. pii: bcr-2017-223249. doi: 10.1136/bcr-2017-223249.

15.

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.

Owen CI, Bowden R, Parker MJ, Patterson J, Patterson J, Price S, Sarkar A, Castle B, Deshpande C, Splitt M, Ghali N, Dean J, Green AJ, Crosby C; Deciphering Developmental Disorders Study, Tatton-Brown K.

Am J Med Genet A. 2018 May;176(5):1108-1114. doi: 10.1002/ajmg.a.38610. Epub 2018 Jan 31.

PMID:
29383814
16.

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD Study.

Genet Med. 2018 Oct;20(10):1216-1223. doi: 10.1038/gim.2017.246. Epub 2018 Jan 11.

17.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study, Banka S.

Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21.

18.

An evaluation of two novel capillaroscopy techniques in suspected scleroderma-spectrum disorders: A single-centre cross-sectional study.

Parker MJS, Oliffe MT, McGill NW.

Mod Rheumatol. 2018 Jul;28(4):676-680. doi: 10.1080/14397595.2017.1404179. Epub 2017 Dec 20.

PMID:
29260602
19.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

20.

Cardiopulmonary exercise testing in the evaluation of liver disease in adults who have had the Fontan operation.

Agarwal A, Cunnington C, Sabanayagam A, Zier L, McCulloch CE, Harris IS, Foster E, Atkinson D, Bryan A, Jenkins P, Dua J, Parker MJ, Karunaratne D, Moore JA, Meadows J, Clarke B, Hoschtitzky JA, Mahadevan VS.

Arch Cardiovasc Dis. 2018 Apr;111(4):276-284. doi: 10.1016/j.acvd.2017.09.001. Epub 2017 Dec 1.

PMID:
29198937
21.
22.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

23.

Hospital at home - a review of our experience.

U ECY, Pryor GA, Parker MJ.

SICOT J. 2017;3:60. doi: 10.1051/sicotj/2017047. Epub 2017 Oct 18.

24.

Peripheral Nerve Blocks for Hip Fractures: A Cochrane Review.

Guay J, Parker MJ, Griffiths R, Kopp SL.

Anesth Analg. 2018 May;126(5):1695-1704. doi: 10.1213/ANE.0000000000002489.

PMID:
28991122
25.

Hip fractures and Parkinson's disease: A case series.

Coomber R, Alshameeri Z, Masia AF, Mela F, Parker MJ.

Injury. 2017 Dec;48(12):2730-2735. doi: 10.1016/j.injury.2017.08.042. Epub 2017 Aug 25. Review.

PMID:
28985911
26.

The outcome of intracapsular hip fracture fixation using the Targon Femoral Neck (TFN) locking plate system or cannulated cancellous screws: A comparative study involving 2004 patients.

Alshameeri Z, Elbashir M, Parker MJ.

Injury. 2017 Nov;48(11):2555-2562. doi: 10.1016/j.injury.2017.08.063. Epub 2017 Sep 1.

PMID:
28918874
27.

Sliding hip screw versus the Targon PFT nail for trochanteric hip fractures: a randomised trial of 400 patients.

Parker MJ, Cawley S.

Bone Joint J. 2017 Sep;99-B(9):1210-1215. doi: 10.1302/0301-620X.99B9.BJJ-2016-1279.R1.

PMID:
28860402
28.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
29.

Aetiological investigations in early developmental impairment: are they worth it?

Hart AR, Sharma R, Atherton M, Alabed S, Simpson S, Barfield S, Cohen J, McGlashan N, Ravi A, Parker MJ, Connolly DJ.

Arch Dis Child. 2017 Nov;102(11):1004-1013. doi: 10.1136/archdischild-2017-312843. Epub 2017 Jul 22.

PMID:
28735260
30.

Neuroimaging in Sepsis: Panacea or Pandora's Box?

Parker MJ, Kissoon N.

Pediatr Crit Care Med. 2017 Jul;18(7):716-717. doi: 10.1097/PCC.0000000000001174. No abstract available.

PMID:
28691959
31.

Peripheral nerve blocks for hip fractures.

Guay J, Parker MJ, Griffiths R, Kopp S.

Cochrane Database Syst Rev. 2017 May 11;5:CD001159. doi: 10.1002/14651858.CD001159.pub2. Review.

PMID:
28494088
32.

Glutamate 52-β at the α/β subunit interface of Escherichia coli class Ia ribonucleotide reductase is essential for conformational gating of radical transfer.

Lin Q, Parker MJ, Taguchi AT, Ravichandran K, Kim A, Kang G, Shao J, Drennan CL, Stubbe J.

J Biol Chem. 2017 Jun 2;292(22):9229-9239. doi: 10.1074/jbc.M117.783092. Epub 2017 Apr 4.

33.

Femoral neck collapse after internal fixation of an intracapsular hip fracture: Does it indicate a poor outcome?

Crosby JM, Parker MJ.

Injury. 2016 Dec;47(12):2760-2763. doi: 10.1016/j.injury.2016.10.021. Epub 2016 Oct 19.

PMID:
28340943
34.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

35.

Novel Pump Control Technology Accelerates Drug Delivery Onset in a Model of Pediatric Drug Infusion.

Parker MJ, Lovich MA, Tsao AC, Deng H, Houle T, Peterfreund RA.

Anesth Analg. 2017 Apr;124(4):1129-1134. doi: 10.1213/ANE.0000000000001706.

PMID:
28181934
36.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.

Evers JM, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, Kingston H, Kini U, Lampe AK, Lim D, Male A, Naik S, Parker MJ, Price S, Robert L, Sarkar A, Straub V, Woods G, Thornton JM; DDD Study, Wright CF.

Hum Mol Genet. 2017 Feb 1;26(3):519-526. doi: 10.1093/hmg/ddw409.

37.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study, Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ.

Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8.

38.

A trial to determine whether septic shock-reversal is quicker in pediatric patients randomized to an early goal-directed fluid-sparing strategy versus usual care (SQUEEZE): study protocol for a pilot randomized controlled trial.

Parker MJ, Thabane L, Fox-Robichaud A, Liaw P, Choong K; Canadian Critical Care Trials Group and the Canadian Critical Care Translational Biology Group.

Trials. 2016 Nov 22;17(1):556.

40.

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D; DDD Study, Parker MJ, Hide W, Skerry TM.

Bone. 2017 Jan;94:65-74. doi: 10.1016/j.bone.2016.10.023. Epub 2016 Oct 24.

41.

Predictors of non-use of intrauterine contraception among women aged 18-49 years in a general practice setting in the UK.

Walker SH, Newton VL, Hoggart L, Parker MJ.

Open Access J Contracept. 2016 Oct 21;7:155-160. doi: 10.2147/OAJC.S116994. eCollection 2016.

42.
44.

Molecular Basis for Recognition of the Cancer Glycobiomarker, LacdiNAc (GalNAc[β1→4]GlcNAc), by Wisteria floribunda Agglutinin.

Haji-Ghassemi O, Gilbert M, Spence J, Schur MJ, Parker MJ, Jenkins ML, Burke JE, van Faassen H, Young NM, Evans SV.

J Biol Chem. 2016 Nov 11;291(46):24085-24095. Epub 2016 Sep 6.

45.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M.

Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18.

46.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study, Hurles ME.

Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1.

47.

Total hip replacement for hip fracture: Surgical techniques and concepts.

Coomber R, Porteous M, Hubble MJW, Parker MJ.

Injury. 2016 Oct;47(10):2060-2064. doi: 10.1016/j.injury.2016.06.034. Epub 2016 Jul 16. Review.

PMID:
27451289
48.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X.

Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22.

49.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR, Mehta SG, Parker MJ, Goudie D, Fagotto-Kaufmann C, Mercer C; DDD Study, Debant A, Ennis S, Baralle D.

J Med Genet. 2016 Nov;53(11):735-742. doi: 10.1136/jmedgenet-2016-103942. Epub 2016 Jul 14.

50.

Assessment of outcome after hip fracture: development of a universal assessment system for hip fractures.

Bowers TM, Parker MJ.

SICOT J. 2016;2:27. doi: 10.1051/sicotj/2016018. Epub 2016 Jun 3.

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