نتائج البحث - "Halachev, M"

1

Academic Journal

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

المؤلفون: Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Nemeth AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR, Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, Ahmed M, Akawi N, Andrews R, Anjum U, Archer H, Armstrong R, Balasubramanian M, Banerjee R, Barelle D, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro PM, Dabir T, Davidson R, Davies S, Dean J, Deshpande C, Devlin G, Dixit A, Dominiczak A, Donnelly C, Donnelly D, Douglas A, Duncan A, Eason J, Edkins S, Ellard S, Ellis P, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fryer A, Fu B, Gardiner C, Gaunt L, Ghali N, Gibbons R, Pereira SLG, Goodship J, Goudie D, Gray E, Greene P, Greenhalgh L, Harrison L, Hawkins R, Hellens S, Henderson A, Hobson E, Holden S, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Ingram S, Irving M, Jarvis J, Jenkins L, Johnson D, Jones D, Jones E, Josifova D, Kaemba B, Kazembe S, Kerr B, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McMullan DJ, McNerlan S, Mehta S, Metcalfe K, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morris A, Morton J, Mugalaasi H, Murday V, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Park S, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, Porteous D, Pratt N, Prescott K, Price S, Pridham A, Proctor A, Purnell H, Ragge N, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts G, Roberts J, Roberts P, Ross A, Rosser E, Saggar A, Samant S, Sandford R, Schweiger S, Scott C, Scott R, Selby A, Seller A, Sequeira C, Shannon N, Sharif S, Shaw-Smith C, Shearing E, Shears D, Simonic I, Simpkin D, Singzon R, Skitt Z, Smith A, Smith B, Smith K, Smithson S, Sneddon L, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tein M, Temple IK, Thomson J, Tolmie J, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Vasudevan P, Vogt J, Wakeling E, Walker D, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Williams D, Williams N, Woods G, Wragg C, Wright M, Yang F, Yau M, Carter NP, Parker M, Barrett JC

المصدر: American Journal of Human Genetics, 7 November 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/261535; https://eprints.ncl.ac.uk/fulltext.aspx?url=261535/5CC6CD84-D300-4747-8732-1CB46ED4463B.pdf&pub_id=261535

الاتاحة: https://eprints.ncl.ac.uk/261535

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2

Academic Journal

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

المؤلفون: Aitken, S, Firth, HV, McRae, J, Halachev, M, Kini, U, Parker, MJ, Lees, MM, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, AH, Scott, RH, Wright, CF, Marsh, JA, Hurles, ME, FitzPatrick, DR

مصطلحات موضوعية: developmental disease, genotype, naive Bayes, phenotype, tSNE

Relation: https://www.ncbi.nlm.nih.gov/pubmed/31607427; Published online 1 October 2019; WT098051; 200990/Z/16/Z; WT091310; MR/M02122X/1; http://hdl.handle.net/10871/39356; American Journal of Human Genetics

الاتاحة: http://hdl.handle.net/10871/39356
https://doi.org/10.1016/j.ajhg.2019.09.015

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3

Academic Journal

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

المؤلفون: Handley, MT, Reddy, K, Wills, J, Rosser, E, Kamath, A, Halachev, M, Falkous, G, Williams, D, Cox, P, Meynert, A, Raymond, ES, Morrison, H, Brown, S, Allan, E, Aligianis, I, Jackson, AP, Ramsahoye, BH, von Kriegsheim, A, Taylor, RW, Finch, AJ, FitzPatrick, DR

مصطلحات موضوعية: Animals, Base Sequence, Cardiomyopathy, Dilated, Cataract, Child, Preschool, DNA Mutational Analysis, DNA, Mitochondrial, Female, Homozygote, Humans, Hypogonadism, Inosine, Intellectual Disability, Male, Metabolism, Inborn Errors, Mice, Knockout, Mouse Embryonic Stem Cells, Mutation, Pedigree, Pyrophosphatases, RNA, Whole Exome Sequencing

وصف الملف: e1007605 - ?

Relation: PLoS Genet; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70957
https://doi.org/10.1371/journal.pgen.1007605

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4

Academic Journal

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

المؤلفون: Martin, C-A, Murray, JE, Carroll, P, Leitch, A, Mackenzie, KJ, Halachev, M, Fetit, AE, Keith, C, Bicknell, LS, Fluteau, A, Gautier, P, Hall, EA, Joss, S, Soares, G, Silva, J, Bober, MB, Duker, A, Wise, CA, Quigley, AJ, Phadke, SR, The Deciphering Developmental Disorders Study, Wood, AJ, Vagnarelli, P, Jackson, AP

مصطلحات موضوعية: condensin, microcephaly, neurodevelopment, decatenation

وصف الملف: 1 - 16

Relation: Genes & Development; Martin, C.A., Murray, J.E., Carroll, P., Leitch, A., Mackenzie, K.J., Halachev, M., Fetit, A.E., Keith, C., Bicknell, L.S., Fluteau, A., Gautier, P. (2016) 'Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis', Genes & Development, 30(19), pp. 2158-72. doi:10.1101/gad.286351.116.; https://bura.brunel.ac.uk/handle/2438/13300; https://doi.org/10.1101/gad.286351.116

الاتاحة: https://bura.brunel.ac.uk/handle/2438/13300
https://doi.org/10.1101/gad.286351.116

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5

Academic Journal

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

المؤلفون: Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR

المصدر: PLoS Genetics, 1 March 2019

وصف الملف: application/pdf

الاتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=256472/FDBCD1EB-F716-4F5E-8D99-5289918F578B.pdf&pub_id=256472

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6

Academic Journal

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

المساهمون: Harley, Me, Murina, O, Leitch, A, Higgs, Mr, Bicknell, L, Yigit, G, Blackford, An, Zlatanou, A, Mackenzie, Kj, Reddy, K, Halachev, M, Mcglasson, S, Reijns, Ma, Fluteau, A, Martin, Ca, Sabbioneda, S, Elcioglu, Nh, Altmüller, J, Thiele, H, Greenhalgh, L, Chessa, L, Maghnie, Mohamad, Salim, M, Bober, Mb, Nürnberg, P, Jackson, Sp, Hurles, Me, Wollnik, B, Stewart, G, Jackson, Ap

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000367255300011; volume:48(1); firstpage:36; lastpage:43; numberofpages:8; journal:NATURE GENETICS; http://hdl.handle.net/11567/823679; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947997687

الاتاحة: http://hdl.handle.net/11567/823679
https://doi.org/10.1038/ng.3451

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