Showing results (4531-4540 of 5,829) with videos related to
Sort By:
Pageof 583
Human Mutation|September 1, 2005
Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriersJonathan A Cohn, John P Neoptolemos, Jinong Feng, et al.Human Mutation|September 3, 2005
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathiesGeorge P Patrinos, Panagoula Kollia, Manoussos N PapadakisHuman Mutation|August 27, 2005
A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancerJohn L Hopper, Vanessa M Hayes, Amanda B Spurdle, et al.Human Mutation|May 3, 2006
Pharmacological rescue of carnitine transport in primary carnitine deficiencyCristina Amat di San Filippo, Marzia Pasquali, Nicola LongoHuman Mutation|May 3, 2006
The cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer diseaseMatthias Riemenschneider, Kaj Blennow, Stefan Wagenpfeil, et al.Human Mutation|May 3, 2006
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancerDenise L Stredrick, Montserrat Garcia-Closas, Marbin A Pineda, et al.Human Mutation|May 4, 2006
Genome-wide identification of pseudogenes capable of disease-causing gene conversionJared M Bischof, Annie P Chiang, Todd E Scheetz, et al.Human Mutation|July 26, 2006
Variable pathogenic potentials of mutations located in the desmin alpha-helical domainBertrand Goudeau, Fernando Rodrigues-Lima, Dirk Fischer, et al.Human Mutation|July 26, 2006
Acute myelogenous leukemia-derived SMAD4 mutations target the protein to ubiquitin-proteasome degradationLei Yang, Ning Wang, Yi Tang, et al.Human Mutation|September 21, 2006
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung diseasePaola Griseri, Francesca Lantieri, Francesca Puppo, et al.Pageof 583