Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Alison Kraus"'
Autor:
Diana Baralle, Susan Walker, Ramya Srinivasan, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, Yanick Crow, Beverly Searle, Julian Barwell, Lyn Chitty, Peter Holmans, Sarah Law, Virginia Clowes, Rachel Harrison, Muriel Holder, Sahar Mansour, Spiros Denaxas, Ellie Kerry, Frances Flinter, Zheng Ye, Julia Rankin, Oliver Quarrell, Nicola Lewis, Anne Lampe, Astrid Weber, David Skuse, Kate Baker, Annie Procter, Jeremy Hall, Alison Kraus, Neil Walker, Jeanne Wolstencroft, Laura Hull, Lauren Warner, Tooba Nadeem Akhtar, William Mandy, Eleanor Dewhurst, Amy Lafont, F Lucy Raymond, Terry Shirley, Hayley Tilley, Husne Timur, Catherine Titterton, Sarah Wallwork, Francesca Wicks, Marie Erwood, Sophie Andrews, Philippa Birch, Samantha Bowen, Karen Bradley, Aimee Challenger, Samuel Chawner, Andrew Cuthbert, Sinead Morrison, Hayley Moss, Michael Owen, Sinead Ray, Matthew Sopp, Molly Tong, Marianne van den Bree, Nadia Coscini, Hayley Denyer, Nasrtullah Fatih, Manoj Juj, Anna Lucock, Frida Printzlau, Alice Watkins, Anna Pelling, Lisa Robertson, Denise Williams Alan, Donaldson Lucy, Fleur van Dijk
Publikováno v:
BMJ Open, Vol 11, Iss 9 (2021)
Externí odkaz:
https://doaj.org/article/6e3c9d93947f4c879e95fa8e598ed6e2
Autor:
Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, Kate Baker, Samuel J R A Chawner, Jeremy Hall, Marianne B M van den Bree, Michael J Owen, David Skuse, F Lucy Raymond, Marie Erwood, Amy Lafont, Husne Timur, Zheng Ye, Susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denyer, Alice Watkins, Eleanor Kerry, Nadia Coscini, Nasrtullah Fatih, Anna Lucock, Spiros Denaxas, William Mandy, Neil Walker, Sarah Wallwork, Eleanor Dewhurst, Andrew Cuthbert, Aimee Challenger, Sophie Andrews, Peter Holmans, Samantha Bowen, Karen Bradley, Philippa Birch, Molly Tong, Nicola Lewis, Sinead Ray, Matthew Sopp, Hayley Moss, Beverley Searle, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, Paul Brennan, Alison Kraus, Nayana Lahiri, Astrid Weber, Myfanwy Rawson, Diana Johnson, Pradeep Vasudevan, Rachel Harrison, Denise Williams, Eamonn Maher, Usha Kini, Fleur Van Dijk, Virginia Clowes, Jana Gurasashvilli, Sahar Mansour, Muriel Holder-Espinasse, Amy Watford, Julia Rankin, Diana Baralle, Annie Procter, Samuel Chawner, Marianne B M Van den Bree
Publikováno v:
The Lancet Psychiatry. 9:715-724
Background\ud Children with intellectual disability frequently have multiple co-morbid neuropsychiatric conditions and poor physical health. Genomic testing is increasingly recommended as a first-line investigation for these children. We aim to deter
Autor:
Sunwoo Lee, Lara Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, Charu Deshpande, Nicola C Foulds, Sébastien Jacquemont, Khadije Jizi, Henriette Kiep, Alison Kraus, Katharina Löhner, Patrick J Morrison, Bernt Popp, Ruth Richardson, Arie Haeringen, Ezequiel Martin, Ana Toribio, Fudong Li, Wendy D Jones, Francis H Sansbury, Eamonn R Maher
Publikováno v:
Human Molecular Genetics.
Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterised by developmental delay and congenital anomalies. The SETD1A
Autor:
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
Publikováno v:
Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142
Chromatinopathy; Syndromic neurodevelopmental disorder; Syndromic obesity Cromatinopatia; Trastorn sindròmic del neurodesenvolupament; Obesitat sindròmica Cromatinopatía; Trastorno sindrómico del neurodesarrollo; Obesidad sindrómica Purpose Prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e
Autor:
Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
PurposeBinding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2 was recently rep
Autor:
Ka Loong Kelvin Au, Janine Lemos Melo Lobo Jofili Lopes, Alison Kraus, Kimberly Patton, Lisa Warren, Hanzhi Gao, Joshua K. Wong, Kathryn Moore, Jon B. Toledo, Tamara Stiep, Jessica Frey, Tracy Tholanikunnel, Christopher Hess, Leonardo Almeida, Adolfo Ramirez-Zamora, Michael S. Okun
Publikováno v:
Parkinsonismrelated disorders. 97
The optimal timing for physical therapy (PT) delivery in Parkinson's disease (PD) is unknown. Our objective was to determine whether spacing physical therapy visits over a longer period of time is beneficial for maintenance of physical function in PD
Autor:
Mary R. Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo‐Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti‐Pierri, Katherine Neas, Rachel Beddow, Pernille M. Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A. Bacino, Akela Kuwahara, Jeffrey O. Bush, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbf2e7cf7e23b99bd24320dbc96276a
https://hdl.handle.net/11368/3032878
https://hdl.handle.net/11368/3032878
Autor:
Jeanne Wolstencroft, Francesca Wicks, Marie Erwood, ramya srinivasan, Amy Lafont, Husniye Timur, Zheng Ye, susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denver, Alice Watkins, Eleanor Kerry, Anna Lucock, Nasratullay Fatih, Sarah Wynn, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, paul brennan, alison Kraus, astrid weber, Myfanwy Rawson, diana Johnson, pradeep vasudevan, rachel harrison, denise williams, Eamonn Maher, Usha Kini, Virginia Clowes, Jana Gurasashvili, sahar mansour, muriel Holder-Espinasse, Amy Watford, julia rankin, diana baralle, annie procter, Tamsin Ford, kate baker, Samuel chawners, Jeremy Hall, Marianne van den Bree, Michael Owen, IMAGINE Consortium, David Skuse, F. Lucy Raymond
Publikováno v:
SSRN Electronic Journal.
Autor:
Schaida Schirwani, Fleur S. van Dijk, Matthew Cauldwell, Rachel E. Harrison, Alison Kraus, Paul Brennan, Neeti Ghali, Nayana Lahiri, Diana Johnson, Glenda Sobey
Publikováno v:
European journal of medical genetics. 65(10)
The association between vascular Ehlers-Danlos Syndrome (vEDS) and amniotic band sequence (ABS) has been previously reported in the literature, mostly in single patient case reports. Here, we aim to extend the current knowledge of this association th
Autor:
Natalie B, Tan, Alistair T, Pagnamenta, Matteo P, Ferla, Jonathan, Gadian, Brian Hy, Chung, Marcus Cy, Chan, Jasmine Lf, Fung, Edwin, Cook, Stephen, Guter, Felix, Boschann, Andre, Heinen, Jens, Schallner, Cyril, Mignot, Boris, Keren, Sandra, Whalen, Catherine, Sarret, Dana, Mittag, Laurie, Demmer, Rachel, Stapleton, Ken, Saida, Naomichi, Matsumoto, Noriko, Miyake, Ruth, Sheffer, Hagar, Mor-Shaked, Christopher P, Barnett, Alicia B, Byrne, Hamish S, Scott, Alison, Kraus, Gerarda, Cappuccio, Nicola, Brunetti-Pierri, Raffaele, Iorio, Fabiola, Di Dato, Lynn S, Pais, Alison, Yeung, Tiong Y, Tan, Jenny C, Taylor, John, Christodoulou, Susan M, White
Publikováno v:
Journal of medical genetics. 59(5)
Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. AWe discovered aWe identified 12 unrelated individuals wit