Clinical and genetic characteristics of patients with unexplained intellectual disability/developmental delay without epilepsy
HB Gerik-Celebi, H Aydin, H Bolat… - Molecular …, 2023 - karger.com
Introduction: Global developmental delay (DD), intellectual disability (ID), and autism
spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder …
spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder …
[HTML][HTML] Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing
S Shin, J Lee, YG Kim, C Ha, JH Park, JW Kim, J Lee… - Pediatric Neurology, 2023 - Elsevier
Abstract Background Neurodevelopmental disorders (NDDs) have diverse phenotypes.
Their genetic diagnoses are often challenged by difficulties of targeting causative genes due …
Their genetic diagnoses are often challenged by difficulties of targeting causative genes due …
[HTML][HTML] Clinical application of prenatal chromosomal microarray
CA Seol - Journal of Genetic Medicine, 2022 - e-kjgm.org
A prenatal chromosomal microarray (CMA) is generally recommended when a major
anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of …
anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of …
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study
CS Chi, CR Tsai, HF Lee - Archives of Disease in Childhood, 2024 - adc.bmj.com
Objective To resolve unsolved whole-genome sequencing (WGS) data in individuals with
paediatric neurological disorders. Design A cohort study method using updated …
paediatric neurological disorders. Design A cohort study method using updated …
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
HBGCH Aydinb, HBG Unsel-Bolatd - 2023 - karger.com
Introduction: Global developmental delay (DD), intellectual disability (ID), and autism
spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder …
spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder …
Copy Number Variations in a Turkish Cohort of Children with Intellectual Disability
Objective: Intellectual disability (ID) is a complex, variable, and clinically heterogeneous
neurodevelopmental disorder that affects 1%–3% of the global population. Copy number …
neurodevelopmental disorder that affects 1%–3% of the global population. Copy number …
Clinical and genetic characteristics of patients with unexplained intellectual disability/developmental delay without epilepsy
Introduction: Global developmental delay (DD), intellectual disability (ID), and autism
spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder …
spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder …