ABSTRACT Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic c

DataCite Commons2020-08-31 更新70

Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia

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Objective: Genetic counseling and diagnostic genetic testing are considered part of the multidisciplinary care of individuals with amyotrophic lateral sclerosis (ALS) and frontotemporal dementi

DataCite Commons2022-11-12 更新80

Supplementary Material for: Postnatal outcomes of fetal variants of unknown significance in prenatal CMA: A single-center study

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Introduction:Chromosome microarray analysis(CMA) can identify clinically significant microdeletions and microduplications, providing valuable insights into the genetic basis of various disorders. Our

DataCite Commons2024-11-16 更新70

Modifications of genetic counseling after fetal autopsy following early TOPFA.

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