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Bioinformatics, ISSN 1367-4803, 09/2019
Journal Article
by Brawand, David and Brawand, David and Wagner, Catherine E and Wagner, Catherine E and Li, Yang I and Li, Yang I and Malinsky, Milan and Malinsky, Milan and Keller, Irene and Keller, Irene and Fan, Shaohua and Fan, Shaohua and Simakov, Oleg and Simakov, Oleg and Ng, Alvin Y and Ng, Alvin Y and Lim, Zhi Wei and Lim, Zhi Wei and Bezault, Etienne and Bezault, Etienne and Turner-Maier, Jason and Turner-Maier, Jason and Johnson, Jeremy and Johnson, Jeremy and Alcazar, Rosa and Alcazar, Rosa and Noh, Hyun Ji and Noh, Hyun Ji and Russell, Pamela and Russell, Pamela and Aken, Bronwen and Aken, Bronwen and Alföldi, Jessica and Alföldi, Jessica and Amemiya, Chris and Amemiya, Chris and Azzouzi, Naoual and Azzouzi, Naoual and Baroiller, Jean-François and Baroiller, Jean-François and Barloy-Hubler, Frederique and Barloy-Hubler, Frederique and Berlin, Aaron and Berlin, Aaron and Bloomquist, Ryan and Bloomquist, Ryan and Carleton, Karen L and Carleton, Karen L and Conte, Matthew A and Conte, Matthew A and D'Cotta, Helena and D'Cotta, Helena and Eshel, Orly and Eshel, Orly and Gaffney, Leslie and Gaffney, Leslie and Galibert, Francis and Galibert, Francis and Gante, Hugo F and Gante, Hugo F and Gnerre, Sante and Gnerre, Sante and Greuter, Lucie and Greuter, Lucie and Guyon, Richard and Guyon, Richard and Haddad, Natalie S and Haddad, Natalie S and Haerty, Wilfried and Haerty, Wilfried and Harris, Rayna M and Harris, Rayna M and Hofmann, Hans A and Hofmann, Hans A and Hourlier, Thibaut and Hourlier, Thibaut and Hulata, Gideon and Hulata, Gideon and Jaffe, David B and Jaffe, David B and Lara, Marcia and Lara, Marcia and Lee, Alison P and Lee, Alison P and MacCallum, Iain and MacCallum, Iain and Mwaiko, Salome and Mwaiko, Salome and Nikaido, Masato and Nikaido, Masato and Nishihara, Hidenori and Nishihara, Hidenori and Ozouf-Costaz, Catherine and Ozouf-Costaz, Catherine and Penman, David J and Penman, David J and Przybylski, Dariusz and Przybylski, Dariusz and Rakotomanga, Michaelle and Rakotomanga, Michaelle and ... and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för medicinsk biokemi och mikrobiologi and Uppsala universitet
Nature, ISSN 0028-0836, 2014, Volume 513, Issue 7518, pp. 375 - 381
Journal Article
Journal Article
Journal Article
Bioinformatics, ISSN 1367-4803, 05/2016, Volume 32, Issue 10, pp. 1441 - 1445
Journal Article
eLife, ISSN 2050-084X, 2014, Volume 3, p. e01641
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2018, Volume 176, Issue 6, pp. 1315 - 1326
Xia‐Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT‐Hook DNA Binding Motif Containing 1 gene ( AHDC1 ). To further... 
de novo mutation | AHDC1 | intellectual disability | EXOME | AUTISM | GENETICS & HEREDITY | DISORDER | PATIENT | MUTATIONS | ADOLESCENT IDIOPATHIC SCOLIOSIS | Medical records | Autism | Medical colleges | Seizures (Medicine) | Genomics | Data entry | Neuroimaging | Phenotypes | Cysts | Scoliosis | Coding | Mutation | Corpus callosum | Genotypes | Seizures
Journal Article
Trends in Biochemical Sciences, ISSN 0968-0004, 2002, Volume 27, Issue 7, pp. 329 - 332
A novel domain (the BRICHOS domain) of ∼100 amino acids has been identified in several previously unrelated proteins that are linked to major diseases. These... 
FBD | ChM-I | stomach cancer | SP-C | BRICHOS | FDD | FIBRIL FORMATION | PULMONARY SURFACTANT | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY |