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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jun 1, 2023. (Total: 217488Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Adams-oliver Syndrome[original query]
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circulation. Cardiovascular genetics 2015 Aug 8 (4): 572-81.
Southgate Laura, Sukalo Maja, Karountzos Anastasios S V, Taylor Edward J, Collinson Claire S, Ruddy Deborah, Snape Katie M, Dallapiccola Bruno, Tolmie John L, Joss Shelagh, Brancati Francesco, Digilio Maria Cristina, Graul-Neumann Luitgard M, Salviati Leonardo, Coerdt Wiltrud, Jacquemin Emmanuel, Wuyts Wim, Zenker Martin, Machado Rajiv D, Trembath Richard
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Human mutation 2018 Jun .
Meester Josephina A N, Sukalo Maja, Schröder Kim C, Schanze Denny, Baynam Gareth, Borck Guntram, Bramswig Nuria C, Duman Duygu, Gilbert-Dussardier Brigitte, Holder-Espinasse Muriel, Itin Peter, Johnson Diana S, Joss Shelagh, Koillinen Hannele, McKenzie Fiona, Morton Jenny, Nelle Heike, Reardon Willie, Roll Claudia, Salih Mustafa A, Savarirayan Ravi, Scurr Ingrid, Splitt Miranda, Thompson Elizabeth, Titheradge Hannah, Travers Colm P, Van Maldergem Lionel, Whiteford Margo, Wieczorek Dagmar, Vandeweyer Geert, Trembath Richard, Van Laer Lut, Loeys Bart L, Zenker Martin, Southgate Laura, Wuyts W
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.
Neuropediatrics 2018 4 49 (3): 217-221.
Pisciotta Livia, Capra Valeria, Accogli Andrea, Giacomini Thea, Prato Giulia, Tavares Purificação, Pinto-Basto Jorge, Morana Giovanni, Mancardi Maria Margheri
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