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Journal Article
Nucleic Acids Research, ISSN 0305-1048, 1/2008, Volume 36, Issue suppl_1, pp. D445 - D448
The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique and ideally meaningful name and symbol to every human gene. The HGNC database currently... 
SYSTEM | SEQUENCES | INFORMATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPREHENSIVE DATABASE | GENE NOMENCLATURE | NCBI | ORTHOLOGY PREDICTIONS | HCOP | Genetic Variation | User-Computer Interface | Animals | Genes | Genomics | Humans | Systems Integration | Databases, Genetic | Terminology as Topic | Mice | Internet | Genome, Human
Journal Article
ANNALS OF HUMAN GENETICS, ISSN 0003-4800, 07/2017, Volume 81, Issue 4, pp. 174 - 175
Journal Article
Kidney International, ISSN 0085-2538, 10/2014, Volume 86, Issue 4, pp. 679 - 684
Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of... 
ACE inhibitors | proteinuria | glomerulus | Alport syndrome | FIBROSIS | GLOMERULAR-BASEMENT-MEMBRANE | COLLAGEN-IV | GENOTYPE-PHENOTYPE CORRELATIONS | NATURAL-HISTORY | THERAPY | 195 FAMILIES | MOUSE MODEL | UROLOGY & NEPHROLOGY | MUTATIONS | PROGRESSION | Meeting Report
Journal Article
Journal Article
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, Davey and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2007, Volume 71, Issue 2, pp. 280 - 280
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2007, Volume 71, Issue 2, p. 280
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2007, Volume 71, Issue 2, pp. 280 - 280
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2013, Volume 49, Issue 4, pp. 243 - 254
Abstract Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the... 
Pediatrics | Neurology | tuberous sclerosis | diagnostic criteria | clinical features | LYMPHANGIOLEIOMYOMATOSIS | MANAGEMENT | VARIANTS | FUNCTIONAL ASSESSMENT | TSC1 | CARDIAC TUMORS | CLINICAL NEUROLOGY | MICRONODULAR PNEUMOCYTE HYPERPLASIA | ANGIOMYOLIPOMAS | DISEASE | HOGG-DUBE-SYNDROME | PEDIATRICS | Conferences, meetings and seminars | Tuberous sclerosis
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 10/2006, pp. 61013031734002 - ?
Journal Article
by Haworth, S and Shapland, C.Y and Hayward, Caroline and Prins, Bram and Felix, Janine and Medina-Gomez, Carolina and Rivadeneira Ramirez, Fernando and Wang, C and Ahluwalia, TS and Vrijheid, Martine and Guxens Junyent, Mònica and Sunyer, Jordi and Tachmazidou, I and Walter, K and Iotchkova, V and Jackson, Anne and Cleal, L and Huffmann, J and Min, Josine and Sass, L and Timmers, P and Al Turki, S and Anderson, CA and Anney, Richard and Antony, D and Soler Artigas, Maria and Ayub, M and Bala, S and Barrett, JC and Barroso, Inês and Beales, P and Bentham, J and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, D and Bobrow, M and Bochukova, E and Bolton, PF and Bounds, R and Boustred, C and Breen, Gerome and Calissano, M and Carss, K and Charlton, R and Chatterjee, Krishna and Chen, Leslie and Ciampi, Antonio and Cirak, S and Clapham, P and Clement, G and Coates, G and Cocca, M and Collier, David and Cosgrove, C and Cox, Tessa and Craddock, Nick and Crooks, L and Curran, S and Curtis, David and Daly, A and Danecek, P and Day, Ian and Day-Williams, A and Dominiczak, Anna and Down, T and Li, Yingrui and Dunham, David and Durbin, R and Edkins, Ted and Ekong, Rosemary and Ellis, Paul and Evans, David and Farooqi, Sadaf and Fitzpatrick, David and Flicek, P and Floyd, Jamie and Foley, AR and Franklin, Christopher and Futema, M and Gallagher, Louise and Gaunt, Tom and Geihs, M and Geschwind, D and Greenwood, John and Griffin, H and Grozeva, Detelina and Guo, X.S and Guo, Xiuqing and Gurling, Hugh and Hart, Deborah and Henicks, AE and Holmans, Peter and Howie, B and Huang, Jian and Huang, L.R and Hubbard, T and Humphries, Steve and Hurles, Matthew and Hysi, Pirro and Jackson, DK and ... and UK10K Consortium and UK10K consortium
Nature Communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 357 - 16
textabstractCranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume... 
COMMON VARIANTS | IMPUTATION | GWAS | MULTIDISCIPLINARY SCIENCES | GROWTH | GENETIC ARCHITECTURE | LD SCORE REGRESSION | WEIGHT | BRAIN | HERITABILITY | GENOME-WIDE ASSOCIATION | Head | p53 Protein | Genetic diversity | Frequency variation | Carriers | Gene frequency | Alleles | Frequency spectrum | Skull | Adults | Children | Genetic factors | Variation | Age | Marcadors bioquímics | Genoma humà
Journal Article