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Hypotonia

Adverse events following Synflorix vaccination reported to the Vaccine Adverse Event Reporting System (VAERS), 2010–2024

Lingyun Cui, Nian Tong, Sicong Hou, Chun Yu

published 12 Jan 2026

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz

published 15 Oct 2021

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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Christina Grau, Molly Starkovich, Mahshid S. Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R. Lalani, Daryl A. Scott

published 17 Apr 2017

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Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B. Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T. Chickabasaviah, Arun Kumar

published 19 May 2016

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Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome

Kaihui Zhang, Shu Liu, Bing Feng, Yali Yang, Haiyan Zhang, Rui Dong, Yi Liu, Zhongtao Gai

published 03 Feb 2016

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MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms

Valentina Conti, Anna Gandaglia, Francesco Galli, Mario Tirone, Elisa Bellini, Lara Campana, Charlotte Kilstrup-Nielsen, Patrizia Rovere-Querini, Silvia Brunelli, Nicoletta Landsberger

published 22 Jun 2015

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Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

Dandan Tan, Haipo Yang, Yun Yuan, Carsten Bonnemann, Xingzhi Chang, Shuang Wang, Yuchen Wu, Xiru Wu, Hui Xiong

published 22 Jun 2015

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Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice

Anna Mari Lone, Mathias Leidl, Amanda K. McFedries, James W. Horner, John Creemers, Alan Saghatelian

published 28 Feb 2014

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Mechanisms of Esophago-Pharyngeal Acid Regurgitation in Human Subjects

Michal Marcin Szczesniak, Rohan Benjamin Williams, Ian James Cook

published 22 Jul 2011

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Histology of the Pharyngeal Constrictor Muscle in 22q11.2 Deletion Syndrome and Non-Syndromic Children with Velopharyngeal Insufficiency

Josine C. C. Widdershoven, Nicole E. Spruijt, Wim G. M. Spliet, Corstiaan C. Breugem, Moshe Kon, Aebele B. Mink van der Molen

published 28 Jun 2011

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