Showing results (61-70 of 75) with videos related to

Sort By:
Pageof 8
BMC Neurology|October 12, 2010
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegiaVictoria Alvarez, Elena Sánchez-Ferrero, Christian Beetz, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
BMC Medical Genomics|July 11, 2018
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patientsRubén Cabanillas, Marta Diñeiro, Guadalupe A Cifuentes, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Nature|March 28, 2008
The first hominin of EuropeEudald Carbonell, José M Bermúdez de Castro, Josep M Parés, et al.
Human Mutation|September 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/BAdrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, et al.
Revista Espanola De Cardiologia (English Ed.)|September 12, 2020
Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using massive sequencingTomás Ripoll-Vera, Consuelo Pérez Luengo, Juan Carlos Borondo Alcázar, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
Frontiers in Genetics|May 2, 2022
Variability in Phelan-McDermid Syndrome in a Cohort of 210 IndividualsJulián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjectsYingjie Zhao, Tingwei Guo, Ania Fiksinski, et al.
Pageof 8