Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Varghese, Shaun"'
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary figure presenting CNVs in AGBL4, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PDF 104 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33c613e85a92b9e24c1ee96dde04b0f1
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary figure presenting CNVs in CSMD1, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PPTX 95 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49a7cdbc5ea98210dbaada9c2a372867
Autor:
Guerrero, Waldo R.1 Waldo.R.Guerrero@uth.tmc.edu, Varghese, Shaun1, Savitz, Sean1, Tzu Ching Wu1
Publikováno v:
BMC Neurology. 2013, Vol. 13 Issue 1, p1-4. 4p. 2 Black and White Photographs.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary figure presenting CNVs in CSMD1, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PPTX 95 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5dacee72d2b57233a1153810b55f6d7a
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table reporting de novo or hemizygous deletions or intragenic duplications encompassing 2â 5 genes in recently proposed candidate or not yet associated disease genes. (DOCX 29 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17c888bb5f23f80e6d4b4903fa58e50e
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table containing clinical information on patients with AGBL4 variants. (DOCX 19 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c0b96c0ba4410a3619a7b1786fe1041
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary table containing clinical information on patients with CSMD1 variants. (DOCX 21 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16ec1a97cbbbb65253284814780c581b
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary text discussing AGBL4 and CSMD1 as potential novel candidate disease genes. (DOCX 40 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76a98df06ce76fa7fcad02fc52708ec8