New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1396-1399

John Wiley & Sons Inc

Access to resources Recommend Favorite

Beware of Hemizygous Deletions That May Unmask Deleterious Variants

By  

Molecular Syndromology, Vol. 3, Iss. 2, 2012-07 ,pp. : 45-46

Karger

Access to resources Recommend Favorite

Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar

By  

Human Heredity, Vol. 79, Iss. 1, 2015-02 ,pp. : 14-19

Karger

Access to resources Recommend Favorite

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer

By Agrawal Shipra   Eng Charis  

Human Molecular Genetics, Vol. 15, Iss. 5, 2006-03 ,pp. : 777-787

Oxford University Press

Access to resources Recommend Favorite

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

By Sabatelli Mario   Eusebi Fabrizio   Al-Chalabi Ammar   Conte Amelia   Madia Francesca   Luigetti Marco   Mancuso Irene   Limatola Cristina   Trettel Flavia   Sobrero Fabrizia   Di Angelantonio Silvia   Grassi Francesca   Di Castro Amalia   Moriconi Claudia   Fucile Sergio   Lattante Serena   Marangi Giuseppe   Murdolo Marina   Orteschi Daniela   Del Grande Alessandra   Tonali Pietro   Neri Giovanni   Zollino Marcella  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3997-4006

Oxford University Press

Access to resources Recommend Favorite