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JCI Insight|June 9, 2025
Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interactionXiaodun Yang, Angela Zanfardino, Riccardo Schiaffini, et al.Frontiers in Endocrinology|January 10, 2022
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult HeightAnnachiara Libraro, Vito D'Ascanio, Marco Cappa, 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.The Journal of Pediatrics|February 5, 2004
Safety, efficacy, and immunogenicity of a live, quadrivalent human-bovine reassortant rotavirus vaccine in healthy infantsH Fred Clark, David I Bernstein, Penelope H Dennehy, 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.Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.Genes|October 28, 2023
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 SyndromeRoberta Onesimo, Elisabetta Sforza, Valentina Trevisan, et al.American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.Journal of Intellectual Disability Research : JIDR|June 15, 2011
Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, ItalyM Bertoli, G Biasini, M T Calignano, et al.Clinical Genetics|September 1, 2017
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndromeM Niceta, K Margiotti, M C Digilio, et al.Pageof 56