Results 151 to 160 of about 540,064 (342)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. [PDF]

, 2019
BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor ...
Amini, Hajar, Chow, Julie, Girirajan, Santhosh, Hormozdiari, Farhad, Hormozdiari, Fereydoun, Jensen, Matthew, Penn, Osnat, Shifman, Sagiv   +7 more
core  

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Inclusive Creative Tourism Through Batik Ciprat: Empowering Individuals with Intellectual Disabilities in Karangpatihan Village—Indonesia [PDF]

Aulia Putri Salsabila, Gunawan Prayitno, Agus Dwi Wicaksono, Achmad Tjachja Nugraha, Enock Siankwilimba, Dian Dinanti   +5 more
openalex   +1 more source

Curriculum-Based Measurement for Written Expression with Postsecondary Students with Intellectual and Developmental Disabilities

, 2019
Jeremy W. Ford, Erica R. Kaldenberg
openalex   +2 more sources

Vitamin D and people with intellectual disability [PDF]

, 2008
Copyright © 2008 Royal Australian College of General Practitioners Copyright to Australian Family Physician. Reproduced with permission. Permission to reproduce must be sought from the publisher, The Royal Australian College of General Practitioners ...
Downs, J., Durvasula, S., Leonard, H., Nugent, M., Vanlint, S.   +4 more
core  

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Working with children with intellectual disabilities in Montenegro

, 2021
Tamara Milić
openalex   +2 more sources

Use of information and communication technologies to promote the learning process of students with intellectual disabilities

, 2023
María Gema Vera-Mera, Nathaly Jessenia Pinda-Román, Michelle Stefany Loayza-Solórzano, Alexandra Fernanda Ordoñez-Calva, Verónica Ximena Olmedo-Zambrano   +4 more
openalex   +2 more sources

Linked nosocomial COVID-19 outbreak in three facilities for people with intellectual and developmental disabilities due to SARS-CoV-2 variant B.1.1.519 with spike mutation T478K in the Netherlands [PDF]

, 2022
Koen M. F. Gorgels, Jozef Dingemans, Brian M. J. W. van der Veer, Volker Hackert, Audrey Y. J. Hensels, Casper D. J. den Heijer, Lieke B. van Alphen, Paul H. M. Savelkoul, Christian J. P. A. Hoebe   +8 more
openalex   +1 more source