المؤلفون: Carling, Rachel S., Barclay, Zoe, Cantley, Nathan, Emmett, Erin C., Hogg, Sarah L., Finezilber, Yael, Schulenburg-Brand, Danja, Murphy, Elaine, Moat, Stuart J.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/163271/1/jmd2.12398.pdf; Carling, Rachel S., Barclay, Zoe, Cantley, Nathan, Emmett, Erin C., Hogg, Sarah L., Finezilber, Yael, Schulenburg-Brand, Danja https://orca.cardiff.ac.uk/view/cardiffauthors/A2858811V.html, Murphy, Elaine and Moat, Stuart J. https://orca.cardiff.ac.uk/view/cardiffauthors/A0083848.html 2023. Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices. JIMD Reports 64 (6) , pp. 468-476. 10.1002/jmd2.12398 https://doi.org/10.1002/jmd2.12398 file https://orca.cardiff.ac.uk/id/eprint/163271/1/jmd2.12398.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/163271/
https://doi.org/10.1002/jmd2.12398
https://orca.cardiff.ac.uk/id/eprint/163271/1/jmd2.12398.pdf

المؤلفون: Finezilber, Yael¹, Massey, Charlotte^2,3, Radley, Jessica A.⁴, Murphy, Elaine¹

المصدر: Practical Neurology. Oct2024, Vol. 24 Issue 5, p413-416. 4p.

مصطلحات موضوعية: *PHENOMENOLOGICAL biology, *DIFFERENTIAL diagnosis, *MUSCLE diseases, *RARE diseases, *TREATMENT effectiveness, *BIOCHEMISTRY, *MUSCLE weakness, *FAILURE to thrive syndrome, *CREATINE, *TRANSFERASES, *PHENOTYPES, *LEARNING disabilities, *ADULTS

المؤلفون: Grünert, Sarah C., Derks, Terry G. J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilkakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

المصدر: Grünert , S C , Derks , T G J , Adrian , K , Al-Thihli , K , Ballhausen , D , Bidiuk , J , Bordugo , A , Boyer , M , Bratkovic , D , Brunner-Krainz , M , Burlina , A , Chakrapani , A , Corpeleijn , W , Cozens , A , Dawson , C , Dhamko , H , Milosevic , M D , Eiroa , H , Finezilber , Y , Moura de Souza , C F , Garcia-Jiménez , M C , Gasperini , S , Haas , D ....

الاتاحة: https://research.vumc.nl/en/publications/a9396a00-aa66-442a-8a88-ca4a4b6aae61
https://doi.org/10.1016/j.gim.2022.04.001
http://www.scopus.com/inward/record.url?scp=85129682988&partnerID=8YFLogxK

المؤلفون: Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, Greenbaum, Lior

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-021-98646-w
https://www.nature.com/articles/s41598-021-98646-w.pdf
https://www.nature.com/articles/s41598-021-98646-w

المؤلفون: Carling, Rachel S, Barclay, Zoe, Cantley, Nathan, Emmett, Erin C, Hogg, Sarah L, Finezilber, Yael, Schulenburg-Brand, Danja, Murphy, Elaine, Moat, Stuart J

مصطلحات موضوعية: DBS, PKU, dried blood spots, microsampling, phenylalanine, phenylketonuria, standardisation, volumetric blood collection devices

وصف الملف: application/pdf; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/358299

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/358299

المؤلفون: Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sebastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Burgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

المساهمون: Puel, Anne -- 0000-0003-2603-0323, Rice, Gillian I -- 0000-0002-4223-0571, GUVEN, AYLA -- 0000-0002-2026-1326, Linglart, Agnes -- 0000-0003-3455-002X, Crow, Yanick J -- 0000-0001-7211-7564, Heritier, Sebastien -- 0000-0003-0384-6370, Coman, David -- 0000-0001-6303-6471, bader-meunier, brigitte -- 0000-0001-8476-8196, Briggs, Tracy -- 0000-0001-5208-2691, Briggs, Tracy A. -- Rice, Gillian I. -- Crow, Yanick J. Univ Manchester, Manchester Ctr Genom Med, Inst Human Dev, Fac Med & Human Sci, Manchester, Lancs, England -- Briggs, Tracy A. Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, St Marys Hosp, Manchester, Lancs, England -- Adib, Navid Lady Cilento Childrens Hosp, Dept Rheumatol, Brisbane, Qld, Australia -- Ades, Lesley Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia -- Ades, Lesley Univ Sydney, Discipline Paedatr & Child Hlth, Sydney, NSW 2006, Australia -- Barete, Stephane Hop La Pitie Salpetriere, Dept Dermatol, Paris, France -- Baskar, Kannan Creighton Univ, 2500 Calif Plaza, Omaha, NE 68178 USA -- Baudouin, Veronique Robert Debre Univ Hosp, AP HP, Pediat Nephrol Dept, 48 Blvd Serurier, F-75019 Paris, France -- Cebeci, Ayse N. -- Guven, Ayla Goztepe Educ & Res Hosp, Pediat Endocrinol Clin, Istanbul, Turkey -- Clapuyt, Philippe Catholic Univ Louvain, Clin Univ St Luc, Pediat Imaging Unit, B-1200 Brussels, Belgium -- Coman, David Lady Cilento Childrens Hosp, Dept Neurosci, Brisbane, Qld, Australia -- Coman, David Griffith Univ, Sch Med, Gold Coast, Australia -- De Somer, Lien Univ Leuven Hosp, Dept Pediat, Pediat Rheumatol, B-3000 Leuven, Belgium -- Finezilber, Yael -- Frydman, Moshe Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Tel Aviv, Israel -- Frydman, Moshe Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel -- Guven, Ayla Amasya Univ, Fac Med, Dept Pediat Endocrinol, Istanbul, Turkey -- Heritier, Sebastien Trousseau Hosp, AP HP, Dept Pediat Hematol & Oncol, Paris, France -- Karall, Daniela -- Scholl-Burgi, Sabine Med Univ Innsbruck, Clin Pediat 1, Inherited Metab Disorders, Anichstr 35, A-6020 Innsbruck, Austria -- Kulkarni, Muralidhar L. JJM Med Coll, Davangere 577004, Karnataka, India -- Lebon, Pierre Hop Cochin, AP HP, Serv Virol, 27 Rue Faubourg St Jacques, F-75674 Paris, France -- Levitt, David Lady Cilento Childrens Hosp, Dept Paediat, Brisbane, Qld, Australia -- Le Merrer, Martine Hop Necker Enfants Malad, Ctr Reference Malad Osseuses Constitut, 149 Rue Sevres, F-75015 Paris, France -- Le Merrer, Martine Hop Necker Enfants Malad, Inst Imagine, 149 Rue Sevres, F-75015 Paris, France -- Linglart, Agnes Bicetre Paris Sud, AP HP, Dept Pediat Endocrinol & Diabetol, F-94270 Le Kremlin Bicetre, France -- Linglart, Agnes Reference Ctr Rare Disorders Mineral Metab, F-94270 Le Kremlin Bicetre, France -- Linglart, Agnes AP HP, Plateforme Expertise Paris Sud Malad Rares, F-94270 Le Kremlin Bicetre, France -- Livingston, John H. Leeds Teaching Hosp NHS Trust, Dept Paediat Neurol, Leeds, W Yorkshire, England -- Navarro, Vincent Hop La Pitie Salpetriere, Epilepsy Unit, Paris, France -- Okenfuss, Ericka Kaiser Permanente Genet, 1650 Response Rd, Sacramento, CA 95815 USA -- Puel, Anne Univ Paris 05, Sorbonne Paris Cite, INSERM, Genet Humaine Malad Infect,Inst Imagine,UMR 1163, Piece 421-B1,24 Blvd Montparnasse, F-75015 Paris, France -- Revencu, Nicole Clin Univ St Luc, Univ Catholique Louvain, Ctr Human Genet, B-1200 Brussels, Belgium -- Vivarelli, Marina IRCCS Bambino Gesu Pediat Hosp, Div Nephrol, Rome, Italy -- Wouters, Carine Univ Leuven, KU Leuven, Dept Microbiol & Immunol, Pediat Immunol, Leuven, Belgium -- Bader-Meunier, Brigitte Hop Necker Enfants Malad, AP HP, Pediat Immunol & Rheumatol Unit, Paris, France -- Bader-Meunier, Brigitte Inst Imagine, Paris, France -- Crow, Yanick J. Inst Imagine, Lab Neurogenet & Neuroinflammat, 24 Blvd Montparnasse, F-75015 Paris, France

مصطلحات موضوعية: Spondyloenchondrodysplasia, SPENCD/SPENCDI, ACP5, tartrate-resistant acid phosphatase (TRAP), type I interferon, interferon signature

Relation: JOURNAL OF CLINICAL IMMUNOLOGY; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1007/s10875-016-0252-y; https://hdl.handle.net/20.500.12450/1215; 36; 220; 234

الاتاحة: https://hdl.handle.net/20.500.12450/1215
https://doi.org/10.1007/s10875-016-0252-y

المؤلفون: Mimouni-Bloch, Aviva, Finezilber, Yael, Rothschild, Michal, Raas-Rothschild, Annick

المصدر: The Journal of Pediatrics ; volume 170, page 333-333.e1 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2015.11.009
https://api.elsevier.com/content/article/PII:S002234761501344X?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S002234761501344X?httpAccept=text/xml

المؤلفون: Pode-Shakked, Ben, Finezilber, Yael, Levi, Yonit, Liber, Shiri, Fleischer, Nicole, Greenbaum, Lior, Raas-Rothschild, Annick

المصدر: European Journal of Medical Genetics ; volume 63, issue 7, page 103927 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2020.103927
https://api.elsevier.com/content/article/PII:S1769721220300057?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721220300057?httpAccept=text/plain

المؤلفون: Greenbaum, Lior, Gilboa, Yinon, Raas-Rothschild, Annick, Barel, Ortal, Kol, Nitzan, Reznik-Wolf, Haike, Pode-Shakked, Ben, Finezilber, Yael, Messing, Baruch, Berkenstadt, Michal

المصدر: European Journal of Medical Genetics ; volume 62, issue 3, page 167-171 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2018.07.004
https://api.elsevier.com/content/article/PII:S1769721217306687?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721217306687?httpAccept=text/plain

المؤلفون: Ben-Shachar, Shay, Finezilber, Yael, Elad, Hofit, Rabinowitz, Keren, Goren, Idan, Isakov, Ofer, Yanai, Henit, Dotan, Iris

المصدر: Inflammatory Bowel Diseases ; volume 25, issue 2, page 336-344 ; ISSN 1078-0998 1536-4844

مصطلحات موضوعية: Gastroenterology, Immunology and Allergy

الاتاحة: http://dx.doi.org/10.1093/ibd/izy231
http://academic.oup.com/ibdjournal/article-pdf/25/2/336/27470789/izy231.pdf

المؤلفون: Ben-Shachar, Shay, Finezilber, Yael, Elad, Hofit, Yanai, Henit A., Dotan, Iris

المصدر: Gastroenterology ; volume 152, issue 5, page S987 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(17)33343-7
https://api.elsevier.com/content/article/PII:S0016508517333437?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508517333437?httpAccept=text/plain

المؤلفون: Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sé, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

المساهمون: Baskar, Kannan

Relation: Briggs, Tracy A.; Rice, Gillian I.; Adib, Navid; Ades, Lesley; Barete, Stephane; Baskar, Kannan, et al. (2016). Erratum to: Spondyloenchondrodysplasia due to Mutations in ACP5: A Comprehensive Survey. J Clin Immunol, July 2016, 36(5):529-530. doi: http://dx.doi.org/10.1007/s10875-016-0287-0; http://hdl.handle.net/10504/90686

الاتاحة: http://hdl.handle.net/10504/90686

المؤلفون: Ben-Shachar, Shay, Finezilber, Yael, Elad, Hofit, Yanai, Henit, Tulchinsky, Hagit, Dotan, Iris

المصدر: Gastroenterology ; volume 148, issue 4, page S-875 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(15)32970-x
https://api.elsevier.com/content/article/PII:S001650851532970X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S001650851532970X?httpAccept=text/plain

المؤلفون: UCL - (SLuc) Service de radiologie, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - (SLuc) Centre de génétique médicale UCL, Briggs, Tracy A, Rice, Gillian I, Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N, Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L, Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H, Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J

المصدر: Journal of Clinical Immunology, Vol. 36, no. 5, p. 529-530 (2016)

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/183044

المؤلفون: UCL - (SLuc) Service de radiologie, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - (SLuc) Centre de génétique médicale UCL, Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

المصدر: Journal of Clinical Immunology, Vol. 36, no. 3, p. 220-234 (2016)

مصطلحات الفهرس: ACP5, SPENCD/SPENCDI, Spondyloenchondrodysplasia, Interferon signature, Tartrate-resistant acid phosphatase (TRAP), Type I interferon, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/183043

المؤلفون: Ben-Shachar, Shay, Finezilber, Yael, Elad, Hofit, Rabinowitz, Keren, Goren, Idan, Isakov, Ofer, Yanai, Henit, Dotan, Iris

المصدر: Inflammatory Bowel Diseases; Feb2019, Vol. 25 Issue 2, p336-344, 9p

المؤلفون: Finezilber, Yael, Lachmann, Robin

المصدر: Medicine; 20240101, Issue: Preprints

المؤلفون: Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Ma Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilkakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.

المصدر: Genetics in Medicine; 20220101, Issue: Preprints

المؤلفون: Finezilber, Yael, Lachmann, Robin

المصدر: Medicine ; volume 53, issue 1, page 44-47 ; ISSN 1357-3039

الاتاحة: https://doi.org/10.1016/j.mpmed.2024.10.007
https://api.elsevier.com/content/article/PII:S1357303924002536?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1357303924002536?httpAccept=text/plain

المؤلفون: Briggs, Tracy, Rice, Gillian, Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse, Clapuyt, Philippe, Coman, David, Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar, Lebon, Pierre, Levitt, David, Merrer, Martine

المصدر: Journal of Clinical Immunology; Jul2016, Vol. 36 Issue 5, p529-530, 2p

مصطلحات موضوعية: SKELETAL dysplasia, GENETIC mutation, MEDICAL research