نتائج البحث - "Taylor, A. M. R."

1

Academic Journal

Adaptive information-based methods for determining the co-integration rank in heteroskedastic VAR models

المؤلفون: Boswijk H. P., Cavaliere G., De Angelis L., Taylor A. M. R.

المساهمون: Boswijk H.P., Cavaliere G., De Angelis L., Taylor A.M.R.

مصطلحات موضوعية: adaptive estimation, autoregressive lag length, co-integration rank, information criteria, non-stationary volatility

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001024170400001; volume:42; issue:9-10; firstpage:725; lastpage:757; numberofpages:33; journal:ECONOMETRIC REVIEWS; https://hdl.handle.net/11585/952417; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165130185

الاتاحة: https://hdl.handle.net/11585/952417
https://doi.org/10.1080/07474938.2023.2222633
https://www.tandfonline.com/doi/full/10.1080/07474938.2023.2222633

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2

Academic Journal

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

المؤلفون: Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R, Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á, Chupp, Sharon, Mathew, Christopher G, Parry, David, Simpson, Michael A, Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W, Stegmann, Alexander P A, Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T R M, Taylor, Alexander M R, Jackson, Andrew P, Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E, Stewart, Grant S

المصدر: Grange , L J , Reynolds , J J , Ullah , F , Isidor , B , Shearer , R F , Latypova , X , Baxley , R M , Oliver , A W , Ganesh , A , Cooke , S L , Jhujh , S S , McNee , G S , Hollingworth , R , Higgs , M R , Natsume , T , Khan , T , Martos-Moreno , G Á , Chupp , S , Mathew , C G , Parry , D , Simpson , M A , Nahavandi , N ....

مصطلحات موضوعية: Humans, Cell Cycle Proteins/genetics, Microcephaly/genetics, DNA Repair/genetics, Chromosomes/metabolism, Genomic Instability, DNA-Binding Proteins/metabolism, Ubiquitin-Protein Ligases/metabolism, Chromosomal Proteins, Non-Histone/metabolism

Relation: https://cris.maastrichtuniversity.nl/en/publications/d25cbc54-c6a3-46e2-bcc9-fb0afe819ff4

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d25cbc54-c6a3-46e2-bcc9-fb0afe819ff4
https://doi.org/10.1038/s41467-022-34349-8

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3

Academic Journal

Robust tests for deterministic seasonality and seasonal mean shifts

المؤلفون: Astill, S., Taylor, A. M. R.

المصدر: The Econometrics Journal, 2018 Jan 01. 21(3), 277-297.

URL الوصول: https://www.jstor.org/stable/45172284

4

Academic Journal

Wild bootstrap seasonal unit root tests for time series with periodic nonstationary volatility

المؤلفون: Cavaliere G., Skrobotov A., Taylor A. M. R.

المساهمون: Cavaliere G., Skrobotov A., Taylor A.M.R.

مصطلحات موضوعية: (periodic) nonstationary volatility, Conditional heteroscedasticity, seasonal unit root, wild bootstrap

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000466430200003; volume:38; issue:5; firstpage:509; lastpage:532; numberofpages:24; journal:ECONOMETRIC REVIEWS; http://hdl.handle.net/11585/717218; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85029427611; www.tandf.co.uk/journals/titles/07474938.asp

الاتاحة: http://hdl.handle.net/11585/717218
https://doi.org/10.1080/07474938.2017.1348684

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5

Academic Journal

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

المؤلفون: van Os, Nienke J H, Chessa, Luciana, Weemaes, Corry M R, van Deuren, Marcel, Fiévet, Alice, van Gaalen, Judith, Mahlaoui, Nizar, Roeleveld, Nel, Schrader, Christoph, Schindler, Detlev, Taylor, Alexander M R, Van de Warrenburg, Bart P C, Dörk, Thilo, Willemsen, Michèl A A P

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/56/5/308; http://dx.doi.org/10.1136/jmedgenet-2018-105635

الاتاحة: http://jmg.bmj.com/cgi/content/short/56/5/308
https://doi.org/10.1136/jmedgenet-2018-105635

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6

Academic Journal

Classic ataxia-telangiectasia: the phenotype of long-term survivors

المؤلفون: van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.

المصدر: Journal of Neurology ; volume 267, issue 3, page 830-837 ; ISSN 0340-5354 1432-1459

الاتاحة: http://dx.doi.org/10.1007/s00415-019-09641-1
http://link.springer.com/content/pdf/10.1007/s00415-019-09641-1.pdf
http://link.springer.com/article/10.1007/s00415-019-09641-1/fulltext.html

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7

Academic Journal

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

المؤلفون: Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M R, Sullivan, Jennifer A, Asleh, Ayat N, Mitra, Jaba, Dar, Mohamad A, McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A, Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R, Littlejohn, Rebecca Okashah, Dibra, Harpreet K, Byrd, Philip J, Stewart, Grant S, Geckinli, Bilgen B, Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E, O'Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F, Thauvin, Christel, Essien Umanah, George K, Van Maldergem, Lionel, Lupski, James R, Roscioli, Tony, Dawson, Valina L, Dawson, Ted M, Antonarakis, Stylianos E

المصدر: Articles, Abstracts, and Reports

مصطلحات موضوعية: washington, spokane, Humans, Intracellular Signaling Peptides and Proteins, Microcephaly, HEK293 Cells, TOR Serine-Threonine Kinases, Neurodevelopmental Disorders, Movement Disorders, Genomics

Relation: https://digitalcommons.psjhealth.org/publications/7084; https://pubmed.ncbi.nlm.nih.gov/36724785

الاتاحة: https://digitalcommons.psjhealth.org/publications/7084
https://pubmed.ncbi.nlm.nih.gov/36724785

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8

Academic Journal

Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

المؤلفون: Weitering, T. J., Willemsen, M. A. A. P., Taylor, A. M. R., Weemaes, C. M. R., van der Burg, M., Berghuis, Dagmar

المساهمون: Leids Universitair Medisch Centrum

المصدر: Journal of Clinical Immunology ; volume 43, issue 8, page 1770-1773 ; ISSN 0271-9142 1573-2592

الاتاحة: http://dx.doi.org/10.1007/s10875-023-01571-y
https://link.springer.com/content/pdf/10.1007/s10875-023-01571-y.pdf
https://link.springer.com/article/10.1007/s10875-023-01571-y/fulltext.html

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9

Academic Journal

First international workshop of the ATM and cancer risk group (4-5 December 2019)

المؤلفون: Lesueur F., Easton D. F., Renault A. -L., Tavtigian S. V., Bernstein J. L., Kote-Jarai Z., Eeles R. A., Plaseska-Karanfia D., Feliubadalo L., Moles-Fernandez A., Santamarina-Pena M., Sanchez A. T., Lopez-Novo A., Porras L. -M., Blanco A., Capella G., de la Hoya M., Molina I. J., Osorio A., Pineda M., Rueda D., de la Cruz X., Diez O., Ruiz-Ponte C., Gutierrez-Enriquez S., Vega A., Lazaro C., Arun B., Herold N., Versmold B., Schmutzler R. K., Nguyen-Dumont T., Southey M. C., Dorling L., Dunning A. M., Ghiorzo P., Dalmasso B. S., Cavaciuti E., Le Gal D., Roberts N. J., Dominguez-Valentin M., Rookus M., Taylor A. M. R., Goldstein A. M., Goldgar D. E., Couch F., Kraft P., Weitzel J., Nathanson K., Domchek S., LaDuca H., Stoppa-Lyonnet D., Andrieu N.

المساهمون: Lesueur, F., Easton, D. F., Renault, A. -L., Tavtigian, S. V., Bernstein, J. L., Kote-Jarai, Z., Eeles, R. A., Plaseska-Karanfia, D., Feliubadalo, L., Moles-Fernandez, A., Santamarina-Pena, M., Sanchez, A. T., Lopez-Novo, A., Porras, L. -M., Blanco, A., Capella, G., de la Hoya, M., Molina, I. J., Osorio, A., Pineda, M., Rueda, D., de la Cruz, X., Diez, O., Ruiz-Ponte, C., Gutierrez-Enriquez, S., Vega, A., Lazaro, C., Arun, B., Herold, N., Versmold, B., Schmutzler, R. K., Nguyen-Dumont, T., Southey, M. C., Dorling, L., Dunning, A. M., Ghiorzo, P., Dalmasso, B. S., Cavaciuti, E., Le Gal, D., Roberts, N. J., Dominguez-Valentin, M., Rookus, M., Taylor, A. M. R., Goldstein, A. M., Goldgar, D. E., Couch, F., Kraft, P., Weitzel, J., Nathanson, K., Domchek, S., Laduca, H., Stoppa-Lyonnet, D., Andrieu, N.

مصطلحات موضوعية: ATM, Cancer risk, Cancer spectrum, Tumor profile, Variants classification

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34125377; info:eu-repo/semantics/altIdentifier/wos/WOS:000661358000001; firstpage:1; lastpage:17; numberofpages:17; journal:FAMILIAL CANCER; http://hdl.handle.net/11567/1051744; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107970671

الاتاحة: http://hdl.handle.net/11567/1051744
https://doi.org/10.1007/s10689-021-00248-y

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10

First international workshop of the ATM and Cancer Risk Group (4–5 December 2019)

المؤلفون: Lesueur, F., Easton, D. F., Renault, A. -L., Tavtigian, S. V., Bernstein, J. L., Kote-Jarai, Z., Eeles, R. A., Plaseska-Karanfia, D., Feliubadalo, L., Moles-Fernandez, A., Santamarina-Pena, M., Sanchez, A. T., Lopez-Novo, A., Porras, L. -M., Blanco, A., Capella, G., de la Hoya, M., Molina, I. J., Osorio, A., Pineda, M., Rueda, D., de la Cruz, X., Diez, O., Ruiz-Ponte, C., Gutierrez-Enriquez, S., Vega, A., Lazaro, C., Arun, B., Herold, N., Versmold, B., Schmutzler, R. K., Nguyen-Dumont, T., Southey, M. C., Dorling, L., Dunning, A. M., Ghiorzo, P., Dalmasso, B. S., Cavaciuti, E., Le Gal, D., Roberts, N. J., Dominguez-Valentin, M., Rookus, M., Taylor, A. M. R., Goldstein, A. M., Goldgar, D. E., Couch, F., Kraft, P., Weitzel, J., Nathanson, K., Domchek, S., Laduca, H., Stoppa-Lyonnet, D., Andrieu, N.

المصدر: Fam Cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f15fec2bfdc6211ab4a9d904d906f28
https://europepmc.org/articles/PMC9969796/

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11

Academic Journal

The Breakpoint of an Inversion of Chromosome 14 in a T-Cell Leukemia: Sequences Downstream of the Immunoglobulin Heavy Chain Locus are Implicated in Tumorigenesis

المؤلفون: Baer, R., Heppell, A., Taylor, A. M. R., Rabbitts, P. H., Boullier, B., Rabbitts, T. H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1987 Dec . 84(24), 9069-9073.

URL الوصول: https://www.jstor.org/stable/30767

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12

Academic Journal

POG12 Ataxia-telangiectasia: mild and slowly progressive clinical presentation associated with two null ATM alleles

المؤلفون: Worth, P, Taylor, A M R

مصطلحات موضوعية: ABN Abstracts

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/81/11/e50-e; http://dx.doi.org/10.1136/jnnp.2010.226340.134

الاتاحة: http://jnnp.bmj.com/cgi/content/short/81/11/e50-e
https://doi.org/10.1136/jnnp.2010.226340.134

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13

Academic Journal

Neurodegeneration in xeroderma pigmentosum

المؤلفون: Taylor, A. M. R.

مصطلحات موضوعية: Scientific Commentary

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/131/8/1967; http://dx.doi.org/10.1093/brain/awn153

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/131/8/1967
https://doi.org/10.1093/brain/awn153

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14

Periodical

Notes from the Woods Hole Laboratory-1928

المؤلفون: Lewis, I F, Taylor, W M R

المساهمون: BioStor

المصدر: 30:193-198

URL الوصول: http://www.biodiversitylibrary.org/part/122716

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15

Academic Journal

Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R

المؤلفون: Goldgraben, M. A., Fewings, E., Larionov, A., Scarth, J., Redman, J., Telford, Nicholas, Arkwright, P. D., Bonney, D., Wilks, Deepti P, Kulkarni, Samar, Taylor, A. M. R., Tischkowitz, M. D., Meyer, Stefan

المساهمون: Academic Department of Medical Genetics, Addenbrooke's Hospital, University of Cambridge, Cambridge, UK.

Relation: https://dx.doi.org/10.1002/pbc.28354; M. A. Goldgraben, E. Fewings, A. Larionov et al. Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R. Pediatr Blood Cancer. 2020:e28354; http://hdl.handle.net/10541/623013; Pediatric Blood and Cancer

الاتاحة: http://hdl.handle.net/10541/623013
https://doi.org/10.1002/pbc.28354

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