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Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology|November 18, 2015
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlationPatrizia Fiorio, Lucia Rosaia De Santis, Cristina Cuoco, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 26, 2004
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocinGianluca Caridi, Afig Berdeli, Monica Dagnino, et al.Physiological Genomics|September 8, 2005
Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locusFrancesca Puppo, Marco Musso, Doroti Pirulli, et al.American Journal of Medical Genetics. Part A|February 5, 2003
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsyCristiana Lo Nigro, Roberto Cusano, Gian Luigi Gigli, et al.Biochimica Et Biophysica Acta|September 3, 2013
Non-canonical translation start sites in the TMEM16A chloride channelElvira Sondo, Paolo Scudieri, Valeria Tomati, et al.Journal of Pediatric Orthopedics|September 8, 2012
Hand and upper limb anomalies in Poland syndrome: a new proposal of classificationNunzio Catena, Maria T Divizia, Maria G Calevo, et al.Human Molecular Genetics|July 9, 2005
Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypesPaolo Catarsi, Roberto Ravazzolo, Francesco Emma, et al.Biochimica Et Biophysica Acta|June 8, 2011
A minimal isoform of the TMEM16A protein associated with chloride channel activityLoretta Ferrera, Paolo Scudieri, Elvira Sondo, et al.Molecular Pharmacology|September 10, 2005
Antihypertensive 1,4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutationsNicoletta Pedemonte, Tullia Diena, Emanuela Caci, et al.Human Mutation|December 25, 2007
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation SyndromeSara Parodi, Tiziana Bachetti, Francesca Lantieri, et al.Pageof 14