Showing results (1-10 of 39) with videos related to
Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|May 6, 2010
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in EuropeHeather Skirton, Celine Lewis, Alastair Kent, et al.Journal of Assisted Reproduction and Genetics|March 2, 2011
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performanceAlessio Paffoni, Valentina Paracchini, Stefania Ferrari, et al.Prenatal Diagnosis|August 12, 2004
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafnessDomenico A Coviello, Bruno Brambati, Lucia Tului, et al.European Journal of Human Genetics : EJHG|August 30, 2007
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)Dario Degiorgio, Carla Colombo, Manuela Seia, et al.Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society|October 11, 2005
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short statureEugenio Bonioli, Marina Tarò, Carmen La Rosa, et al.Gene|October 19, 2022
Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjectsGiuseppina Conteduca, Barbara Testa, Chiara Baldo, et al.Journal of Pediatric Gastroenterology and Nutrition|December 2, 2010
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutationsCarla Colombo, Pietro Vajro, Dario Degiorgio, et al.Life (Basel, Switzerland)|July 27, 2022
NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M CheckpointGiuseppina Conteduca, Davide Cangelosi, Simona Coco, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 3, 2010
The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestorMarie-Louise Syrén, Nicolò Borsa Ghiringhelli, Alberto Bettinelli, et al.Journal of Gastroenterology|September 2, 2015
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expressionDario Degiorgio, Andrea Crosignani, Carla Colombo, et al.Pageof 4