Zobrazeno 1 - 10
of 1 692
pro vyhledávání: '"A, Giess"'
Publikováno v:
In European Journal of Paediatric Neurology July 2024 51:84-92
Autor:
Clémentine Reynette, Renaud Giess, Jeanne Davril, Jean-Marc Martrette, Éric Mortier, Rémy Balthazard, Marin Vincent
Publikováno v:
BDJ Open, Vol 9, Iss 1, Pp 1-10 (2023)
Abstract Aims The endodontic literature reports a lot of comparative study on endodontic instruments, concerning as well their geometry, instrumental dynamics, material, mechanical behavior or heat treatment. However, to our knowledge, no study has f
Externí odkaz:
https://doaj.org/article/c292eae2fd8d403b9af291ff8410d7d2
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-14 (2023)
Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including chronic fatigue disorders like myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). These conditions may involve
Externí odkaz:
https://doaj.org/article/7f35a723b37b4bb3b10fae27e17205c1
Autor:
Yang Pei, Melanie Tanguy, Adam Giess, Abhijit Dixit, Louise C. Wilson, Richard J. Gibbons, Stephen R. F. Twigg, Greg Elgar, Andrew O. M. Wilkie
Publikováno v:
Genes, Vol 15, Iss 7, p 925 (2024)
The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent–child trios, w
Externí odkaz:
https://doaj.org/article/03729fe8e2f841d1a084ff78ef1650ec
Autor:
Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., Halbritter, Jan
Publikováno v:
In Gastroenterology May 2024 166(5):902-914
Autor:
Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Publikováno v:
In Genetics in Medicine April 2024 26(4)
Publikováno v:
In Data & Knowledge Engineering March 2024 150
Autor:
Majid, Sana Z., Senapati, Gunjan M., Lacson, Ronilda, Chikarmane, Sona A., Giess, Catherine S.
Publikováno v:
In Clinical Imaging March 2024 107
Autor:
Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders. Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequen
Externí odkaz:
https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212
Autor:
Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, PerezGil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Sadeghi-Alavijeh, Omid, Chan, Melanie M.Y., Moochhala, Shabbir H., Howles, Sarah, Gale, Daniel P., Böckenhauer, Detlef
Publikováno v:
In Kidney International November 2023 104(5):975-984