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American Journal of Medical Genetics. Part A|December 21, 2018
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutationEmmanuel de Billy, Luisa Strocchio, Antonella Cacchione, et al.Journal of Reproductive Immunology|July 24, 2007
Immunogenicity of a multi-component recombinant human acrosomal protein vaccine in female Macaca fascicularisBarbara E Kurth, Laura Digilio, Phillip Snow, et al.Clinical and Experimental Immunology|April 18, 2003
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)M Pierdominici, F Mazzetta, E Caprini, et al.International Journal of Molecular Sciences|May 14, 2022
Fighting the Huntington's Disease with a G-Quadruplex-Forming Aptamer Specifically Binding to Mutant Huntingtin Protein: Biophysical Characterization, In Vitro and In Vivo StudiesClaudia Riccardi, Federica D'Aria, Filomena Anna Digilio, et al.International Journal of Molecular Sciences|October 27, 2022
Truncated Analogues of a G-Quadruplex-Forming Aptamer Targeting Mutant Huntingtin: Shorter Is Better!Claudia Riccardi, Federica D'Aria, Dominga Fasano, et al.American Journal of Medical Genetics. Part A|April 3, 2021
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literatureRoberta Onesimo, Paolo Versacci, Angelica Bibiana Delogu, et al.American Journal of Medical Genetics. Part A|December 13, 2021
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revisionMarianna Cicenia, Viola Alesi, Valeria Orlando, et al.BMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.Clinical Genetics|September 3, 2010
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleAlessandro De Luca, A Sarkozy, R Ferese, et al.European Journal of Medical Genetics|November 11, 2021
Congenital heart defects in the recurrent 2q13 deletion syndromeM C Digilio, M L Dentici, S Loddo, et al.Pageof 56