Zobrazeno 1 - 10
of 98
pro vyhledávání: '"James Hyland"'
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novel SMAD3 mutation in a patient with hypoplastic left
Externí odkaz:
https://doaj.org/article/3ef7ba159cfd4251ad6c830fe6aa8292
Autor:
Ola Khalifa, Gheid Abuharb, Khalid Al-Mane, Nadia Sakati, Ameera Balobaid, Zuhair N. Al-Hassnan, Mohammed Al-Owain, James Hyland, Faiqa Imtiaz, Amal Al-Hemidan, Rabab Allam
Publikováno v:
Journal of Medical Genetics. 49:246-248
Recently, Tompson et al 1 described the use of autozygosity mapping and expression studies to identify compound heterozygous mutations (c.2386G>C/c.3943G>T; c.1786dupG/c.3124G>A) in the COL11A1 gene in two unrelated patients as a cause of fibrochondr
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Case Reports in Genetics
Case Reports in Genetics
Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency ofSMAD3is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novelSMAD3mutation in a patient with hypoplastic left hear
Autor:
Ola, Khalifa, Faiqa, Imtiaz, Rabab, Allam, Zuhair, Al-Hassnan, Amal, Al-Hemidan, Khalid, Al-Mane, Gheid, Abuharb, Ameera, Balobaid, Nadia, Sakati, James, Hyland, Mohammed, Al-Owain
Publikováno v:
Journal of medical genetics. 49(4)
Experimental demonstrations and detailed theoretical explanations are provided for a thorough understanding of the various phase-cycling schemes in an optical pulse shaper assisted two-dimensional electronic spectroscopy (2DES) in a pump–probe beam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79b054b16391703fc0d67fee1e0f08f
https://hdl.handle.net/10356/96120
https://hdl.handle.net/10356/96120
Autor:
Marc Slawik, Felix Beuschlein, Katrina Light, Roger Mulder, Gordon Dent, Mark G. Buckley, Stephen T. Holgate, Rosalia Misseri, Kirstan K. Meldrum, Massimiliano Mirabella, Gabriella Silvestri, Thomas Frieling, Alexander K. C. Leung, Andrew L. Wong, Marcus Schmitt, Jürgen Kohlhase, Sevan Hopyan, William Lane M. Robson, Maria Judit Molnar, Andrew J. Saxon, Simone Schimpf, Stefan R. Bornstein, Regina Ensenauer, Arno Fuchshuber, Carlo Nunes, Michael Escudier, Jo Spencer, Miranda Lomer, Stephen Challacombe, Jeremy Sanderson, Manish Suneja, Christie P. Thomas, Donatella Granchi, Nicola Baldini, George E. Ehrlich, Matthew B. Dobbs, Yasuaki Nakagawa, James Hyland, Roland Staud, Rajiv Kumar, Mary H. Hohenhaus, Nananda F. Col, Miep Helfrich, Anna Villa, Jan Hellemans, Geert Mortier, Minrong Ai, Matthew L. Warman, Markus Pfister, Hans-Peter Zenner, Stefan K. Plontke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c4a6cdca4d3ef9c37d7065d7cfbfd5d
https://doi.org/10.1007/978-3-540-29676-8_3354
https://doi.org/10.1007/978-3-540-29676-8_3354
Autor:
Marc Slawik, Felix Beuschlein, Katrina Light, Roger Mulder, Gordon Dent, Mark G. Buckley, Stephen T. Holgate, Rosalia Misseri, Kirstan K. Meldrum, Massimiliano Mirabella, Gabriella Silvestri, Thomas Frieling, Alexander K. C. Leung, Andrew L. Wong, Marcus Schmitt, Jürgen Kohlhase, Sevan Hopyan, William Lane M. Robson, Maria Judit Molnar, Andrew J. Saxon, Simone Schimpf, Stefan R. Bornstein, Regina Ensenauer, Arno Fuchshuber, Carlo Nunes, Michael Escudier, Jo Spencer, Miranda Lomer, Stephen Challacombe, Jeremy Sanderson, Manish Suneja, Christie P. Thomas, Donatella Granchi, Nicola Baldini, George E. Ehrlich, Matthew B. Dobbs, Yasuaki Nakagawa, James Hyland, Roland Staud, Rajiv Kumar, Mary H. Hohenhaus, Nananda F. Col, Miep Helfrich, Anna Villa, Jan Hellemans, Geert Mortier, Minrong Ai, Matthew L. Warman, Markus Pfister, Hans-Peter Zenner, Stefan K. Plontke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be9acd2549bf0b167205d4e2bc5c3f74
https://doi.org/10.1007/978-3-540-29676-8_8885
https://doi.org/10.1007/978-3-540-29676-8_8885
Autor:
Marc Slawik, Felix Beuschlein, Katrina Light, Roger Mulder, Gordon Dent, Mark G. Buckley, Stephen T. Holgate, Rosalia Misseri, Kirstan K. Meldrum, Massimiliano Mirabella, Gabriella Silvestri, Thomas Frieling, Alexander K. C. Leung, Andrew L. Wong, Marcus Schmitt, Jürgen Kohlhase, Sevan Hopyan, William Lane M. Robson, Maria Judit Molnar, Andrew J. Saxon, Simone Schimpf, Stefan R. Bornstein, Regina Ensenauer, Arno Fuchshuber, Carlo Nunes, Michael Escudier, Jo Spencer, Miranda Lomer, Stephen Challacombe, Jeremy Sanderson, Manish Suneja, Christie P. Thomas, Donatella Granchi, Nicola Baldini, George E. Ehrlich, Matthew B. Dobbs, Yasuaki Nakagawa, James Hyland, Roland Staud, Rajiv Kumar, Mary H. Hohenhaus, Nananda F. Col, Miep Helfrich, Anna Villa, Jan Hellemans, Geert Mortier, Minrong Ai, Matthew L. Warman, Markus Pfister, Hans-Peter Zenner, Stefan K. Plontke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::631efa8baef2f884241bdc4c3b8dafcc
https://doi.org/10.1007/978-3-540-29676-8_40
https://doi.org/10.1007/978-3-540-29676-8_40
Autor:
Marc Slawik, Felix Beuschlein, Katrina Light, Roger Mulder, Gordon Dent, Mark G. Buckley, Stephen T. Holgate, Rosalia Misseri, Kirstan K. Meldrum, Massimiliano Mirabella, Gabriella Silvestri, Thomas Frieling, Alexander K. C. Leung, Andrew L. Wong, Marcus Schmitt, Jürgen Kohlhase, Sevan Hopyan, William Lane M. Robson, Maria Judit Molnar, Andrew J. Saxon, Simone Schimpf, Stefan R. Bornstein, Regina Ensenauer, Arno Fuchshuber, Carlo Nunes, Michael Escudier, Jo Spencer, Miranda Lomer, Stephen Challacombe, Jeremy Sanderson, Manish Suneja, Christie P. Thomas, Donatella Granchi, Nicola Baldini, George E. Ehrlich, Matthew B. Dobbs, Yasuaki Nakagawa, James Hyland, Roland Staud, Rajiv Kumar, Mary H. Hohenhaus, Nananda F. Col, Miep Helfrich, Anna Villa, Jan Hellemans, Geert Mortier, Minrong Ai, Matthew L. Warman, Markus Pfister, Hans-Peter Zenner, Stefan K. Plontke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21849b37e45b1d53588946e4153fb3b2
https://doi.org/10.1007/978-3-540-29676-8_3187
https://doi.org/10.1007/978-3-540-29676-8_3187
Autor:
Marc Slawik, Felix Beuschlein, Katrina Light, Roger Mulder, Gordon Dent, Mark G. Buckley, Stephen T. Holgate, Rosalia Misseri, Kirstan K. Meldrum, Massimiliano Mirabella, Gabriella Silvestri, Thomas Frieling, Alexander K. C. Leung, Andrew L. Wong, Marcus Schmitt, Jürgen Kohlhase, Sevan Hopyan, William Lane M. Robson, Maria Judit Molnar, Andrew J. Saxon, Simone Schimpf, Stefan R. Bornstein, Regina Ensenauer, Arno Fuchshuber, Carlo Nunes, Michael Escudier, Jo Spencer, Miranda Lomer, Stephen Challacombe, Jeremy Sanderson, Manish Suneja, Christie P. Thomas, Donatella Granchi, Nicola Baldini, George E. Ehrlich, Matthew B. Dobbs, Yasuaki Nakagawa, James Hyland, Roland Staud, Rajiv Kumar, Mary H. Hohenhaus, Nananda F. Col, Miep Helfrich, Anna Villa, Jan Hellemans, Geert Mortier, Minrong Ai, Matthew L. Warman, Markus Pfister, Hans-Peter Zenner, Stefan K. Plontke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c039924b340128a518fbe4da09d390e
https://doi.org/10.1007/978-3-540-29676-8_1313
https://doi.org/10.1007/978-3-540-29676-8_1313