المؤلفون: Smith, Lacey Baldwin, 1922-2013

مصطلحات موضوعية: Martyrdom -- History, Martyrs -- Biography, Traitors -- Biography

المؤلفون: Galer, Peter D, Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E, Pendziwiat, Manuela, Helbig, Katherine L, Ellis, Colin A, Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Group, NCEE Study, Investigators, EPGP, Consortium, EuroEPINOMICS-RES, Network, Genomics Research and Innovation, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo

المصدر: American Journal of Human Genetics. 107(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Epilepsy, Prevention, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Child, Preschool, Cohort Studies, Female, GABA Plasma Membrane Transport Proteins, Gene Expression, Gene Ontology, Humans, Male, Munc18 Proteins, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Semantics, Shab Potassium Channels, Spasms, Infantile, Speech Disorders, Terminology as Topic, Exome Sequencing, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Human Phenotype Ontology, childhood epilepsies, computational phenotypes, developmental and epileptic encephalopathies, electronic medical records, neurogenetic disorders, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1jp636w4

المؤلفون: Smith, Lacey Baldwin, 1922-2013

جغرافية الموضوع: Great Britain -- History -- Lancaster and York, 1399-1485, Great Britain -- History -- Tudors, 1485-1603, Great Britain -- History -- Stuarts, 1603-1714

المؤلفون: Smith, Lacey Baldwin, 1922-2013

Subject Person: Catherine Howard Queen, consort of Henry VIII, King of England 1542

جغرافية الموضوع: Great Britain -- History -- Henry VIII, 1509-1547

المؤلفون: Smith, Lacey Baldwin, 1922-2013

جغرافية الموضوع: Great Britain -- History -- Elizabeth, 1558-1603, Europe -- History -- 1492-1648

Other Title: Elizabethan world.

المؤلفون: Bruenger, Tobias, Ivanuk, Alina, Pérez-Palma, Eduardo, Montanucci, Ludovica, Cohen, Stacey, Smith, Lacey, Parthasarathy, Shridhar, Helbig, Ingo, Nothnagel, Michael, MAY, Patrick, Lal, Dennis

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

مصطلحات موضوعية: Paralogs, Variant classification, Genetics, Missense variants, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.researchsquare.com/article/rs-5434140/v1; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; https://orbilu.uni.lu/handle/10993/62901; info:hdl:10993/62901

الاتاحة: https://orbilu.uni.lu/handle/10993/62901
https://orbilu.uni.lu/bitstream/10993/62901/1/bd452d6d-4f7f-45b1-8e91-0373cf082d2d.pdf
https://doi.org/10.21203/rs.3.rs-5434140/v1

المؤلفون: Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin, Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Štěrbová, Katalin, Hammer, Trine, Møller, Rikke, Shinde, Deepali, Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine, Haucke, Volker, Weber, Yvonne, Shen, Joseph

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Human Phenotype Ontology, clathrin-mediated endocytosis, computational phenotypes, developmental and epileptic encephalopathy, neurodevelopmental disorders, synaptic transmission, Adaptor Protein Complex 2, Adaptor Protein Complex mu Subunits, Adolescent, Animals, Brain Diseases, Child, Child, Preschool, Clathrin, Endocytosis, Epilepsy, Female, Humans, Infant, Mice, Mice, Knockout, Mutation, Missense, Neurodevelopmental Disorders, Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8945q735

المؤلفون: Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L, Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F, Murch, Oliver, Irving, Rachel, Lynch, Sally A, Mehta, Sarju G, Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M, Westphall, Ian T, Hughes, Susan S, Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C, Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S, Rubboli, Guido, Bayat, Allan

المساهمون: Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: autism, cupped ears, epilepsy, neurodevelopmental disorder, POU3F3, Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/449161

الاتاحة: https://dspace.library.uu.nl/handle/1874/449161

المؤلفون: Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld-Huijssoon, Evelien, de Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding-Byth, Tracy, Simon, Marleen, van Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

المصدر: Rossi , A , Blok , L S , Neuser , S , Klöckner , C , Platzer , K , Faivre , L O , Weigand , H , Dentici , M L , Tartaglia , M , Niceta , M , Alfieri , P , Srivastava , S , Coulter , D , Smith , L , Vinorum , K , Cappuccio , G , Brunetti-Pierri , N , Torun , D , Arslan , M , Lauridsen , M F , Murch , O , Irving , R , Lynch , S A , Mehta , ....

مصطلحات موضوعية: autism, cupped ears, epilepsy, neurodevelopmental disorder, POU3F3

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/2fd9acfb-e649-465c-8136-e2d987db37c6
https://research.rug.nl/en/publications/2fd9acfb-e649-465c-8136-e2d987db37c6
https://doi.org/10.1111/cge.14353
https://pure.rug.nl/ws/files/812121871/POU3F3-related_disorder-_Defining_the_phenotype_andexpanding_the_molecular_spectrum.pdf
http://www.scopus.com/inward/record.url?scp=85159066767&partnerID=8YFLogxK

المؤلفون: Simmons, Roxanne, Singhal, Nilika, Sullivan, Joseph, Shih, Tina, Tihan, Tarik, Poduri, Annapurna, Smith, Lacey, Yang, Edward

المصدر: Epilepsy & Behavior ; volume 149, page 109517 ; ISSN 1525-5050

الاتاحة: http://dx.doi.org/10.1016/j.yebeh.2023.109517
https://api.elsevier.com/content/article/PII:S1525505023004365?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525505023004365?httpAccept=text/plain

المؤلفون: Haviland, Isabel, Daniels, Carolyn I., Greene, Caitlin A., Drew, Jacqueline, Love-Nichols, Jamie A., Swanson, Lindsay C., Smith, Lacey, Nie, Duyu A., Benke, Timothy, Sheidley, Beth R., Zhang, Bo, Poduri, Annapurna, Olson, Heather E.

المصدر: Pediatric Neurology ; volume 138, page 71-80 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2022.10.006
https://api.elsevier.com/content/article/PII:S0887899422002223?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899422002223?httpAccept=text/plain

المؤلفون: Smith, Lacey Michele

مصطلحات موضوعية: Animal Science (Theses)

الاتاحة: http://digital.library.okstate.edu/etd/umi-okstate-2075.pdf

المؤلفون: Brünger, Tobias, Ivaniuk, Alina, Pérez-Palma, Eduardo, Montanucci, Ludovica, Cohen, Stacey, Smith, Lacey, Parthasarathy, Shridhar, Helbig, Ingo, Nothnagel, Michael, May, Patrick, Lal, Dennis

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

مصطلحات موضوعية: ACMG, missense variants, paralogs, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.medrxiv.org/content/early/2023/08/24/2023.08.22.23294353; https://orbilu.uni.lu/handle/10993/55852; info:hdl:10993/55852; https://orbilu.uni.lu/bitstream/10993/55852/1/2023.08.22.23294353v1.full.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/55852
https://orbilu.uni.lu/bitstream/10993/55852/1/2023.08.22.23294353v1.full.pdf
https://doi.org/10.1101/2023.08.22.23294353

المؤلفون: D'Gama, Alissa M., Shao, Wanqing, Smith, Lacey, Koh, Hyun Yong, Davis, Maya, Koh, Julia, Oby, Brandon T., Urzua, Cesar I., Sheidley, Beth Rosen, Rockowitz, Shira, Poduri, Annapurna

المصدر: JAMA Neurology; Dec2024, Vol. 81 Issue 12, p1316-1318, 3p

المؤلفون: Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M., Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C., Ellis, Colin A., Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, el Achkar, Christelle M., Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S., Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo

المصدر: Xian , J , Parthasarathy , S , Ruggiero , S M , Balagura , G , Fitch , E , Helbig , K , Gan , J , Ganesan , S , Kaufman , M C , Ellis , C A , Lewis-Smith , D , Galer , P , Cunningham , K , O'Brien , M , Cosico , M , Baker , K , Darling , A , Veiga de Goes , F , el Achkar , C M , Doering , J H , Furia , F , García-Cazorla , Á , Gardella , E ....

الاتاحة: https://research.vumc.nl/en/publications/0f814190-9b78-4c0e-8faa-93078780b2a3
https://doi.org/10.1093/brain/awab327
http://www.scopus.com/inward/record.url?scp=85127359568&partnerID=8YFLogxK

المؤلفون: Smith, Lacey, Malinowski, Jennifer, Ceulemans, Sophia, Peck, Katlin, Walton, Nephi, Sheidley, Beth Rosen, Lippa, Natalie

المصدر: Journal of Genetic Counseling ; volume 32, issue 2, page 266-280 ; ISSN 1059-7700 1573-3599

الاتاحة: https://doi.org/10.1002/jgc4.1646
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1646
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jgc4.1646

المؤلفون: Lai, Abbe, Soucy, Aubrie, El Achkar, Christelle Moufawad, Barkovich, Anthony J., Cao, Yang, DiStefano, Marina, Evenson, Michael, Guerrini, Renzo, Knight, Devon, Lee, Yi-Shan, Mefford, Heather C., Miller, David T., Mirzaa, Ghayda, Mochida, Ganesh, Rodan, Lance H., Patel, Mayher, Smith, Lacey, Spencer, Sara, Walsh, Christopher A., Yang, Edward, Yuskaitis, Christopher J., Yu, Timothy, Poduri, Annapurna, Achkar, Christelle, Barkovich, James, Chelly, Jamel, Engle, Elizabeth, Hong, William, Koh, Hyunyong, Lassiter, Rhonda, Marsh, Eric, Pinsky, Rebecca, Shain, Catherine

المصدر: Genetics in Medicine ; volume 24, issue 11, page 2240-2248 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.07.020
https://api.elsevier.com/content/article/PII:S1098360022008711?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022008711?httpAccept=text/plain

المؤلفون: Achkar, Christelle, Harrer, Merle, Smith, Lacey, Kelly, Mckenna, Iqbal, Sumaiya, Maljevic, Snezana, Niturad, Cristina, Vissers, Lisenka, Poduri, Annapurna, Yang, Edward, Lal, Dennis, Lerche, Holger, Møller, Rikke, Olson, Heather, Meyer, Pierre

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-03272477; https://hal.science/hal-03272477; https://hal.science/hal-03272477/document; https://hal.science/hal-03272477/file/2021%20Achkar%20et%20al.,%20Characterisation%20of%20the%20GABRB2%20associated.pdf

الاتاحة: https://hal.science/hal-03272477
https://hal.science/hal-03272477/document
https://hal.science/hal-03272477/file/2021%20Achkar%20et%20al.,%20Characterisation%20of%20the%20GABRB2%20associated.pdf
https://doi.org/10.1002/ana.25985

المؤلفون: Daniels, Carolyn, Greene, Caitlin, Smith, Lacey, Pestana‐Knight, Elia, Demarest, Scott, Zhang, Bo, Benke, Timothy A., Poduri, Annapurna, Olson, Heather E., Swanson, Lindsay, Love‐Nichols, Jamie, El Achkar, Christelle Moufawad, Witt, Rochelle M, Kaufmann, Walter E, Lieberman, David N, Julich, Kristina, Srivastava, Siddharth, Nie, Duyu A, Zhang, Xiaoming, Moosa, Ahsan N

المصدر: Developmental Medicine & Child Neurology; Apr2024, Vol. 66 Issue 4, p456-468, 13p

مصطلحات موضوعية: EPILEPSY, LENNOX-Gastaut syndrome, MOVEMENT disorders, FISHER exact test, SPASMS, VISION disorders

المؤلفون: Rockowitz, Shira, LeCompte, Nicholas, Carmack, Mary, Quitadamo, Andrew, Wang, Lily, Park, Meredith, Knight, Devon, Sexton, Emma, Smith, Lacey, Sheidley, Beth, Field, Michael, Holm, Ingrid A., Brownstein, Catherine A., Agrawal, Pankaj B., Kornetsky, Susan, Poduri, Annapurna, Snapper, Scott B., Beggs, Alan H., Yu, Timothy W., Williams, David A., Sliz, Piotr

المصدر: npj Genomic Medicine ; volume 5, issue 1 ; ISSN 2056-7944

الاتاحة: http://dx.doi.org/10.1038/s41525-020-0137-0
https://www.nature.com/articles/s41525-020-0137-0.pdf
https://www.nature.com/articles/s41525-020-0137-0