المؤلفون: Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope

المصدر: Epilepsia. 64(2)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0q22f2xmTest

المؤلفون: Menard, Laura M., Blevins, Amy E., Vetter, Cecelia J., Trujillo, Daniel J.

مصطلحات موضوعية: Medical Libraries, Mixed Methods, Evidence based medicine, EBM, Critical Appraisal

وصف الملف: application/pdf

العلاقة: Menard L, Blevins AE, Vetter CJ, Trujillo DJ. How Do Medical Students Approach Critical Appraisal? Results from a Mixed-Methods Study. Paper presented at: Medical Library Association Annual Conference; 2023 May 19; Detroit, MI.; https://hdl.handle.net/1805/35669Test

الإتاحة: https://hdl.handle.net/1805/35669Test

المؤلفون: Menard, Laura, Blevins, Amy E., Vetter, Cecelia J., Trujillo, Daniel J.

مصطلحات موضوعية: Medical Libraries, Mixed Methods, Evidence based medicine, EBM, Critical Appraisal

وصف الملف: application/pdf

العلاقة: Menard L, Blevins AE, Vetter CJ, Trujillo DJ. How Do Medical Students Approach Critical Appraisal? Results from a Mixed-Methods Study. Paper presented at: Medical Library Association Annual Conference; 2023 May 19; Detroit, MI.; https://hdl.handle.net/1805/35669Test

الإتاحة: https://hdl.handle.net/1805/35669Test

المؤلفون: Eberlein, Michael, Reed, Robert M, Chahla, Mayy, Bolukbas, Servet, Blevins, Amy, Van Raemdonck, Dirk, Stanzi, Alessia, Inci, Ilhan, Marasco, Silvana, Shigemura, Norihisa, Aigner, Clemens, Deuse, Tobias

المصدر: World journal of transplantation. 7(1)

مصطلحات موضوعية: Cadaveric lobar lung transplantation, Lobar lung transplantation from deceased donors, Lung size matching, Primary graft dysfunction, Survival

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6d381763Test

المؤلفون: Rigter, Pomme M.F., de Konink, Charlotte, Dunn, Matthew J., Proietti Onori, Martina, Humberson, Jennifer B., Thomas, Matthew, Barnes, Caitlin, Prada, Carlos E., Weaver, K. Nicole, Ryan, Thomas D., Caluseriu, Oana, Conway, Jennifer, Calamaro, Emily, Fong, Chin To, Wuyts, Wim, Meuwissen, Marije, Hordijk, Eva, Jonkers, Carsten N., Anderson, Lucas, Yuseinova, Berfin, Polonia, Sarah, Beysen, Diane, Stark, Zornitza, Savva, Elena, Poulton, Cathryn, McKenzie, Fiona, Bhoj, Elizabeth, Bupp, Caleb P., Bézieau, Stéphane, Mercier, Sandra, Blevins, Amy, Wentzensen, Ingrid M., Xia, Fan, Rosenfeld, Jill A., Hsieh, Tzung Chien, Krawitz, Peter M., Elbracht, Miriam, Veenma, Danielle C.M., Schulman, Howard, Stratton, Margaret M., Küry, Sébastien, van Woerden, Geeske M.

المصدر: Rigter , P M F , de Konink , C , Dunn , M J , Proietti Onori , M , Humberson , J B , Thomas , M , Barnes , C , Prada , C E , Weaver , K N , Ryan , T D , Caluseriu , O , Conway , J , Calamaro , E , Fong , C T , Wuyts , W , Meuwissen , M , Hordijk , E , Jonkers , C N , Anderson , L , Yuseinova , B , Polonia , S , Beysen , D , ....

العلاقة: https://pure.eur.nl/en/publications/a704bea5-5a9c-41d1-8034-cb7dc64fda30Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.12.016Test
https://pure.eur.nl/en/publications/a704bea5-5a9c-41d1-8034-cb7dc64fda30Test
http://www.scopus.com/inward/record.url?scp=85183503717&partnerID=8YFLogxKTest

المؤلفون: Salpietro, Vincenzo, Galassi-Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé-Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle, SYNAPS Study Group, Reich, Adi, Blevins, Amy, Sala-Coromina, Julia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope

المصدر: Epilepsia , 64 (2) pp. 443-455. (2022)

مصطلحات موضوعية: KV1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10159016/1/Kullmann_Epilepsia%20-%202022%20-%20Salpietro%20-%20De%20novo%20KCNA6%20variants%20with%20attenuated%20KV1%206%20channel%20deactivation%20in%20patients%20with%20epilepsy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10159016Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10159016/1/Kullmann_Epilepsia%20-%202022%20-%20Salpietro%20-%20De%20novo%20KCNA6%20variants%20with%20attenuated%20KV1%206%20channel%20deactivation%20in%20patients%20with%20epilepsy.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10159016Test/

المؤلفون: Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé-Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala-Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya Ruiz, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope, Universitat Autònoma de Barcelona

مصطلحات موضوعية: K1 Shaker channel family, Neurodevelopmental disorder, Voltage-gated potassium channels, Whole exome sequencing

وصف الملف: application/pdf

العلاقة: Epilepsia; Vol. 64 (december 2022), p. 443-455; https://ddd.uab.cat/record/281601Test; urn:10.1111/epi.17455; urn:oai:ddd.uab.cat:281601; urn:pmcid:PMC10108282; urn:pmc-uid:10108282; urn:pmid:36318112; urn:oai:pubmedcentral.nih.gov:10108282; urn:articleid:15281167v64p443; urn:oai:egreta.uab.cat:publications/d06055ea-be45-4d09-9640-3c902027fbb6

الإتاحة: https://ddd.uab.cat/record/281601Test

المؤلفون: Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope

المساهمون: Wellcome Trust

المصدر: Epilepsia ; volume 64, issue 2, page 443-455 ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.17455Test

المؤلفون: Craven, Hannah J., Hinrichs, Rachel J., Pike, Caitlin A., Blevins, Amy E.

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/1805/25913Test

الإتاحة: https://hdl.handle.net/1805/25913Test

المؤلفون: van Woerden, Geeske M., Bos, Melanie, de Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, de Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, van Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske

المصدر: van Woerden , G M , Bos , M , de Konink , C , Distel , B , Avagliano Trezza , R , Shur , N E , Barañano , K , Mahida , S , Chassevent , A , Schreiber , A , Erwin , A L , Gripp , K W , Rehman , F , Brulleman , S , McCormack , R , de Geus , G , Kalsner , L , Sorlin , A , Bruel , A L , Koolen , D A , Gabriel , M K , Rossi , M , ....

الإتاحة: https://doi.org/10.1002/humu.24176Test
https://pure.eur.nl/en/publications/40d4fed9-ed6c-4d87-a215-5913a09b1a2dTest
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxKTest