المؤلفون: Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M., Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T., Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M., Hajianpour, M. J., Pal, Deb K., Engelen, Marc, Hagebeuk, Eveline E.O., Shinawi, Marwan, Heidlebaugh, Alexis R., Oetjens, Kathryn, Hoffman, Trevor L., Striano, Pasquale, Freed, Amanda S., Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B., Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R., Tiller, Jacob, Freed, Amber N., Kang, Jing Qiong, Wuster, Arthur, Møller, Rikke S., Lal, Dennis

المصدر: Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/418b110b-e546-4751-8335-4c10be7ba841Test

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://pure.eur.nl/en/publications/418b110b-e546-4751-8335-4c10be7ba841Test
https://pure.eur.nl/ws/files/122245149/SLC6A1_variant_pathogenicity_molecular_function_and_phenotype.pdfTest
http://www.scopus.com/inward/record.url?scp=85169582892&partnerID=8YFLogxKTest

المؤلفون: Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R

المصدر: Brain: A Journal of Neurology; Dec2023, Vol. 146 Issue 12, p5198-5208, 11p

مصطلحات موضوعية: TRANSMEMBRANE domains, PHENOTYPES, MISSENSE mutation, GENETIC variation, CONFIDENCE intervals

المؤلفون: Drivas, Theodore G, Li, Dong, Nair, Divya, Alaimo, Joseph T, Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E Martina, Bertsch, Nicole L, Blackburn, Patrick R, Blesson, Alyssa, Bouman, Arjan M, Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M, Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E, Gunderson, Lauren B, Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W, Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L, Milunsky, Jeff M, Napier, Melanie P, Ortiz-Gonzalez, Xilma R, Pichurin, Pavel N, Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J, Renaud, Deborah L, Rush, Eric T, Saunders, Carol, Selcen, Duygu, Seman, Ann R, Shinde, Deepali N, Smith, Erica D, Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M, Tang, Sha, Tartaglia, Marco, Thompson, Michelle L, van de Kamp, Jiddeke M, Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H, Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

المصدر: Paediatrics Publications

مصطلحات موضوعية: Autism spectrum disorders, Genetic testing, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/391Test; https://ir.lib.uwo.ca/context/paedpub/article/1408/viewcontent/Drivas_et_al.___2020___A_second_cohort_of_CHD3_patients_expands_the_molec.pdfTest

الإتاحة: https://doi.org/10.1038/s41431-020-0654-4Test
https://ir.lib.uwo.ca/paedpub/391Test
https://ir.lib.uwo.ca/context/paedpub/article/1408/viewcontent/Drivas_et_al.___2020___A_second_cohort_of_CHD3_patients_expands_the_molec.pdfTest

المؤلفون: Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ãngel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis

المصدر: Journal Articles

مصطلحات موضوعية: autism, epilepsy, neurodevelopmental disorder, genetics, SLC6A1, Humans, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Mutation, Missense, Phenotype, Medical Specialties, Medicine and Health Sciences, Neurology

وصف الملف: application/pdf

العلاقة: https://digitalcommons.library.tmc.edu/uthmed_docs/1466Test; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2442/viewcontent/awad292.pdfTest

الإتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/1466Test
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2442/viewcontent/awad292.pdfTest

المؤلفون: Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Marielle, Altmuller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coeslier, Anne, Dubbs, Holly A., Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., Van De Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe M., Bhoj, Elizabeth

المساهمون: Université de Lille

العلاقة: European journal of human genetics . EJHG; Eur. J. Hum. Genet.; http://hdl.handle.net/20.500.12210/55382Test

الإتاحة: https://doi.org/20.500.12210/55382Test
https://hdl.handle.net/20.500.12210/55382Test

المؤلفون: Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

المصدر: European Journal of Human Genetics: EJHG; October 2020, Vol. 28 Issue: 10 p1422-1431, 10p