Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
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.
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|May 11, 2017
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndromeViola Alesi, Maria L Dentici, Fabrizia Restaldi, et al.
American Journal of Medical Genetics. Part A|August 4, 2020
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girlMaria C Rossi-Espagnet, Maria L Dentici, Luca Pasquini, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutationsMaria L Dentici, Vittorio Maglione, Emanuele Agolini, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
Small 4p16.3 deletions: Three additional patients and review of the literatureLaura Bernardini, Francesca C Radio, Fabio Acquaviva, et al.
Human Mutation|February 10, 2021
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defectsSarah J Beecroft, Marcos Ayala, George McGillivray, et al.
Italian Journal of Dermatology and Venereology|March 20, 2023
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseasesMichele Callea, Emanuele Bellacchio, Francisco Cammarata Scalisi, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 27, 2023
A soil fungus confers plant resistance against a phytophagous insect by disrupting the symbiotic role of its gut microbiotaIlaria Di Lelio, Giobbe Forni, Giulia Magoga, et al.
Pageof 4