Showing results (111-120 of 335) with videos related to
Sort By:
Pageof 34
Case Reports in Genetics|June 12, 2015
Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and HypobetalipoproteinemiaLeema Reddy Peddareddygari, Raji P GrewalCase Reports in Genetics|June 12, 2015
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese FamiliesMaria Valencia, Lara Tabet, Nadine Yazbeck, et al.Case Reports in Genetics|June 16, 2015
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY SyndromeSefa Resim, Faruk Kucukdurmaz, Nazım Kankılıc, et al.Case Reports in Genetics|November 14, 2018
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type IKwo Wei David Ho, Nivedita U JerathCase Reports in Genetics|November 14, 2018
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeL Swan, G Gole, V Sabesan, et al.Case Reports in Genetics|July 27, 2018
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille SyndromeAlejandra Del Pilar Reyes-de la Rosa, Gustavo Varela-Fascinetto, Constanza García-Delgado, et al.Case Reports in Genetics|May 20, 2017
Neoplasia in Cri du Chat Syndrome from Italian and German DatabasesAndrea Guala, Marianna Spunton, Silvia Kalantari, et al.Case Reports in Genetics|February 25, 2014
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II DeficiencyM Vavlukis, A Eftimov, P Zafirovska, et al.Case Reports in Genetics|February 25, 2014
Absence of substantial copy number differences in a pair of monozygotic twins discordant for features of autism spectrum disorderMarina Laplana, José Luis Royo, Anton Aluja, et al.Case Reports in Genetics|April 30, 2014
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?K M Usrey, C A Williams, M Dasouki, et al.Pageof 34