المؤلفون: Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., Shinawi, Marwan S.

المصدر: American Journal of Human Genetics, 110(11), 1959-1975, (2023-11-02)

مصطلحات موضوعية: Genetics (clinical), Genetics

Relation: https://ars.els-cdn.com/content/image/1-s2.0-S0002929723003609-mmc1.pdf; https://www.ncbi.nlm.nih.gov/pmc/PMC10645565

الاتاحة: https://www.ncbi.nlm.nih.gov/pmc/PMC10645565

المؤلفون: Doberstein, Rachel, Pilipenko, Valentina, Pulda, Kathleen, Wusik, Katie, Spaeth, Christine G.

المصدر: Journal of Genetic Counseling ; volume 33, issue 5, page 995-1003 ; ISSN 1059-7700 1573-3599

الاتاحة: https://doi.org/10.1002/jgc4.1815
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1815

المؤلفون: Doberstein, Rachel, Pilipenko, Valentina, Pulda, Kathleen, Wusik, Katie, Spaeth, Christine G.

المصدر: Journal of Genetic Counseling; Oct2024, Vol. 33 Issue 5, p995-1003, 9p

المؤلفون: Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., Baple, Emma L.

المصدر: The American Journal of Human Genetics ; volume 109, issue 11, page 2068-2079 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.09.012
https://api.elsevier.com/content/article/PII:S0002929722004153?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722004153?httpAccept=text/plain

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

المساهمون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercede, Munell, Francina, Macaya, Alfon, Boles, Richard, Heimer, Gali, Papacostas, Savva, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

مصطلحات موضوعية: autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical)

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3138980; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; https://www.cell.com/ajhg/fulltext/S0002-9297(19)30061-8

الاتاحة: http://hdl.handle.net/11570/3138980
https://doi.org/10.1016/j.ajhg.2019.02.016
https://www.cell.com/ajhg/fulltext/S0002-9297(19)30061-8

المؤلفون: Barnett, Chloe, Myers, Melanie F., Spaeth, Christine G., Pilipenko, Valentina, Bucheit, Leslie A.

المصدر: Journal of Genetic Counseling ; volume 29, issue 2, page 182-191 ; ISSN 1059-7700 1573-3599

الاتاحة: http://dx.doi.org/10.1002/jgc4.1236
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjgc4.1236
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1236
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jgc4.1236

المؤلفون: Tipsword, Meghan L., White, Peter S., Spaeth, Christine G., Ittenbach, Richard F., Myers, Melanie F.

المساهمون: Cincinnati Children's Hospital Medical Center - Center for Pediatric Genomics

المصدر: Journal of Genetic Counseling ; volume 27, issue 2, page 392-405 ; ISSN 1059-7700 1573-3599

الاتاحة: http://dx.doi.org/10.1007/s10897-017-0196-2
http://link.springer.com/article/10.1007/s10897-017-0196-2/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10897-017-0196-2.pdf
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10897-017-0196-2

المؤلفون: Qualmann, Krista J., Spaeth, Christine G., Myers, Melanie F., Horn, Paul S., Holland, Katherine, Mangano, Francesco T., Greiner, Hansel M.

المصدر: Journal of Child Neurology ; volume 32, issue 5, page 467-474 ; ISSN 0883-0738 1708-8283

الاتاحة: http://dx.doi.org/10.1177/0883073816685653
http://journals.sagepub.com/doi/pdf/10.1177/0883073816685653
http://journals.sagepub.com/doi/full-xml/10.1177/0883073816685653

المؤلفون: Maynard, Lauren M., Leach, James L., Horn, Paul S., Spaeth, Christine G., Mangano, Francesco T., Holland, Katherine D., Miles, Lili, Faist, Robert, Greiner, Hansel M.

المصدر: Epilepsy Research ; volume 132, page 41-49 ; ISSN 0920-1211

الاتاحة: http://dx.doi.org/10.1016/j.eplepsyres.2017.03.001
https://api.elsevier.com/content/article/PII:S0920121116302790?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0920121116302790?httpAccept=text/xml

المؤلفون: Hrabik, Sarah A., Standridge, Shannon M., Greiner, Hansel M., Neilson, Derek E., Pilipenko, Valentina V., Zimmerman, Sarah L., Connor, Jessica A., Spaeth, Christine G.

المصدر: Journal of Child Neurology ; volume 30, issue 13, page 1770-1777 ; ISSN 0883-0738 1708-8283

الاتاحة: http://dx.doi.org/10.1177/0883073815579972
http://journals.sagepub.com/doi/pdf/10.1177/0883073815579972
http://journals.sagepub.com/doi/full-xml/10.1177/0883073815579972

المؤلفون: Burrow, Thomas A., Spaeth, Christine G., Sisk, Robert E., Hallinan, Barbara E.

المصدر: Molecular Genetics and Metabolism ; volume 114, issue 2, page S26-S27 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2014.12.041
https://api.elsevier.com/content/article/PII:S1096719214004211?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719214004211?httpAccept=text/plain

المؤلفون: Patek, Kyla J., Kline‐Fath, Beth M., Hopkin, Robert J., Pilipenko, Valentina V., Crombleholme, Timothy M., Spaeth, Christine G.

المصدر: Prenatal Diagnosis ; volume 32, issue 1, page 75-82 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.2911
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.2911
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.2911

المؤلفون: Tipsword, Meghan L., White, Peter S., Spaeth, Christine G., Ittenbach, Richard F., Myers, Melanie F.

المصدر: Journal of Genetic Counseling; Apr2018, Vol. 27 Issue 2, p392-405, 14p

المؤلفون: Prada, Carlos E., Sellars, Elizabeth A., Spaeth, Christine G., Kline‐Fath, Beth M., Crombleholme, Timothy M., Hopkin, Robert J.

المصدر: Prenatal Diagnosis ; volume 31, issue 12, page 1198-1202 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.2898
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.2898
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.2898

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida

المصدر: Department of Paediatrics and Child Health

مصطلحات موضوعية: SNARE, VAMP2, Autism, epilepsy, Movement disorders, Neurodevelopmental disorders, Neuronal exocytosis, Synaptobrevin, synaptopathy, Vesicle fusion, Neurology, Pediatrics

Relation: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1250; https://www.cell.com/ajhg/fulltext/S0002-9297(19)30061-8

الاتاحة: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1250
https://www.cell.com/ajhg/fulltext/S0002-9297(19)30061-8

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria Concetta, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce Grau, Anna, Raspall Chaure, Miquel, Martin Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar Daniel, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Tran Mau Them, Frederic, Faivre, Laurence, Martinez Azorin, Francisco, Prada, Carlos E., Macaya, Alfons

مصطلحات موضوعية: AUTISM, EPILEPSY, MOVEMENT DISORDERS, NEURODEVELOPMENTAL DISORDERS, NEURONAL EXOCYTOSIS, SNARE, SYNAPTOBREVIN, SYNAPTOPATHY, VAMP2, VESICLE FUSION, https://purl.org/becyt/ford/3.1, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S0002929719300618; http://hdl.handle.net/11336/160046; Salpietro, Vincenzo; Malintan, Nancy T.; Llano Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; et al.; Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment; Cell Press; American Journal Of Human Genetics; 104; 4; 3-2019; 721-730; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/160046

المؤلفون: Dooley, Colette T., Spaeth, Christine G., Berzetei-Gurske, Ilona P., Craymer, Karen, Adapa, Indira D., Brandt, Susan R., Houghten, Richard A., Toll, Lawrence

المصدر: The Journal of Pharmacology and Experimental Therapeutics; November 1997, Vol. 283 Issue: 2 p735-741, 7p