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Human Genetics|October 1, 1996
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansionM Milà, S Castellví-Bel, R Giné, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 1, 1997
Maternal transmission in sporadic Huntington's diseaseA Sánchez, M Milà, S Castellví-Bel, et al.Kidney International|April 14, 1999
Mutational analysis within the 3' region of the PKD1 geneC Badenas, R Torra, J L San Millán, et al.The British Journal of Dermatology|June 24, 2006
Mutation of the tumour suppressor p33ING1b is rare in melanomaM Stark, J A Puig-Butille, G Walker, et al.Radiology|November 30, 1999
Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosisC Nicolau, R Torra, C Badenas, et al.European Journal of Human Genetics : EJHG|July 26, 2000
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patientsC Badenas, R Torra, L Pérez-Oller, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|June 19, 1998
Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studiesR Torra, C Badenas, A Darnell, et al.Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|July 14, 2019
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?J Miranda, F Paz Y Miño, V Borobio, et al.Prenatal Diagnosis|July 13, 2002
Pilot study for the neonatal screening of fragile X syndromeM Rifé, J Mallolas, C Badenas, et al.Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia|May 24, 2000
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes]R Torra, C Badenas, L Pérez-Oller, et al.Pageof 7