Number of items: 28.
Deleterious genetic variation across the NOD-signaling pathway is associated with reduced NFKB-signaling transcription and upregulation of alternative inflammatory transcripts in paediatric inflammatory bowel disease -
James Ashton,
Konstantinos Boukas,
Imogen, Sian Stafford,
Guo Cheng,
Rachel Haggarty,
Tracy Coelho,
Akshay Batra,
Nadeem A. Afzal,
Anthony Williams,
Marta Polak,
R. Mark Beattie and
Sarah Ennis
Type: Article
| 2022
Type: Article
| 2022
| Item not available on this server.
Type: Dataset
| 2022
| figshare
| Item not available on this server.
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder -
Lot Snijders Blok,
Jolijn Verseput,
Dmitrijs Rots,
Hanka Venselaar,
A.M. Innes,
Connie Stumpel,
Katrin Ounap,
Karit Reinson,
Eleanor G. Seaby,
Shane Mckee,
Barbara Burton,
Johanna M. van Hagen,
Quinten Waisfisz,
Pascal Joset,
Katharina Steindl,
Anita Rauch,
Dong Li,
Elaine Zackai,
Sarah Sheppard,
Beth Keena,
Hakon Hakonarson,
Andreas Roos,
Nicolai Kohlschmidt,
Anna Cereda,
Maria Iascone,
Erika Rebessi,
Kristin D. Kernohan,
Philippe M. Campeau,
Francisca Millan,
Jesse A. Taylor,
Birgitta Bernhard,
Simon E. Fisher,
Han G. Brunner and
Tjitske Kleefstra
Type: Meeting abstract
| 2022
| Item not available on this server.
Nonacog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients with Moderately Severe or Severe Hemophilia B in India -
Nirmalkumar Choraria,
Savita Rangarajan,
M. Joseph John,
Shashikant Apte,
Pritam Gupta,
Seema Pai,
Rohit Chand,
Shyam Parvatini,
G.S.H. Ramakanth,
Jeremy Rupon,
Amit Chhabra,
Hitesh Bhaskarrao Muley and
Damien Simoneau
Type: Article
| 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genome -
Jamie M. Ellingford,
Joo Wook Ahn,
Richard D Bagnall,
Diana Baralle,
Stephanie Barton,
Chris Campbell,
Kate Downes,
Sian Ellard,
Celia Duff-Farrier,
David R. FitzPatrick,
John M Greally,
Jodie Ingles,
Neesha Krishnan,
Jenny Lord,
Hilary C Martin,
William G. Newman,
Anne O'Donnell-Luria,
Simon C. Ramsden,
Heidi L. Rehm,
Ebony Richardson,
Moriel Singer-Berk,
Jenny C. Taylor,
Maggie Williams,
Jordan C Wood,
Caroline F. Wright,
Harrison Steven M and
Nicola Whiffin
Type: Article
| 2022
Paternal pre-pubertal tobacco smoking and offspring DNA methylation -
N Kitaba,
T. Knudsen,
A. Johannessen,
F. Rezwan,
A. Malinovschi,
A. Oudin,
B. Benediktsdottir,
D. Martino,
F Callejas. González,
L. Gómez,
M. Holm,
O. Jõgi,
S. Shyamali Dharmage,
S. Skulstad,
F. Gómez-Real,
V. Schlünssen,
C. Svanes and
J. Holloway
Type: Meeting abstract
| 2022
| Item not available on this server.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability -
Sébastien Küry,
Jinwei Zhang,
Thomas Besnard,
Alfonso Caro-Llopis,
Xue Zeng,
Stephanie M Robert,
Sunday S Josiah,
Emre Kiziltug,
Anne-Sophie Denommé-Pichon,
Benjamin Cogné,
Adam J Kundishora,
Le T Hao,
Hong Li,
Roger E Stevenson,
Raymond J Louie,
Wallid Deb,
Erin Torti,
Virginie Vignard,
Kirsty McWalter,
F Lucy Raymond,
Farrah Rajabi,
Emmanuelle Ranza,
Detelina Grozeva,
Stephanie A Coury,
Xavier Blanc,
Elise Brischoux-Boucher,
Boris Keren,
Katrin Õunap,
Karit Reinson,
Pilvi Ilves,
Ingrid M Wentzensen,
Eileen E Barr,
Solveig Heide Guihard,
Perrine Charles,
Eleanor G Seaby,
Kristin G Monaghan,
Marlène Rio,
Yolande van Bever,
Marjon van Slegtenhorst,
Wendy K Chung,
Ashley Wilson,
Delphine Quinquis,
Flora Bréhéret,
Kyle Retterer,
Pierre Lindenbaum,
Emmanuel Scalais,
Lindsay Rhodes,
Katrien Stouffs,
Elaine M Pereira,
Sara M Berger,
Sarah S Milla,
Ankita B Jaykumar,
Melanie H Cobb,
Shreyas Panchagnula,
Phan Q Duy,
Marie Vincent,
Sandra Mercier,
Brigitte Gilbert-Dussardier,
Xavier Le Guillou,
Séverine Audebert-Bellanger,
Sylvie Odent,
Sébastien Schmitt,
Pierre Boisseau,
Dominique Bonneau,
Annick Toutain,
Estelle Colin,
Laurent Pasquier,
Richard Redon,
Arjan Bouman,
Jill A Rosenfeld,
Michael J Friez,
Helena Pérez-Peña,
Syed Raza Akhtar Rizvi,
Shozeb Haider,
Stylianos E Antonarakis,
Charles E Schwartz,
Francisco Martínez,
Stéphane Bézieau,
Kristopher T Kahle and
Bertrand Isidor
Type: Article
| 2022
Evaluating the immune response in treatment-naïve hospitalised patients with influenza and COVID-19 -
Jelmer Legebeke,
Jenny Lord,
Rebekah Penrice-Randal,
Andres F Vallejo,
Stephen Poole,
Nathan Brendish,
Xiaofeng Dong,
Catherine Hartley,
John Holloway,
Jane Lucas,
Anthony Williams,
Gabrielle Wheway,
Fabio Strazzeri,
Aaron Gardner,
James P R Schofield,
Paul Skipp,
Julian A. Hiscox,
Marta Polak,
Tristan Clark and
Diana Baralle
Type: Article
| 2022
Evidence of a genetically driven metabolomic signature in actively inflamed Crohn’s disease -
Enrico Mossotto,
Joanna Boberska,
James J. Ashton,
Imogen S. Stafford,
Guo Cheng,
Jonathan Baker,
Florina Borca,
Hang T. T. Phan,
Tracy F. Coelho,
R. Mark Beattie,
Sandrine P. Claus and
Sarah Ennis
Type: Article
| 2022
Type: Article
| 2022
| Item not available on this server.
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis -
Htoo Wai,
Matthew Constable,
Cosima Drewes,
Ian C Davies,
Eliska Svobodova,
Esther Dempsey,
Anand Saggar,
Sahar Mansour,
Sofia Douzgou,
Kate Barr,
Stephanie Scott,
David Hunt,
Andrew Douglas and
Diana Baralle
Type: Article
| 2022
This list was generated on Tue Mar 26 02:13:00 2024 GMT.