genetics and autism spectrum disorder: the who, the what ... · wyandt et al, human chromosome...
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Sources: Filipek et al., Neurology, Johnson et al., Pediatrics, Schaefer et al., Genetics in Medicine
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Harrington et al, Clinical Pediatrics, 2018
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Harrington et al, Clinical Pediatrics, 2018
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Wyandt et al, Human Chromosome Variation: Heteromorphism and Polymorphism
Karyotype
Zneimer S, Cytogenetic abnormalities: chromosomal, FISH, and microarray-based reporting
Chromosomal Microarray
Nelson et al., Fragile X Syndrome: From Genetics To Targeted Treatment
Fragile X
Garg et al., Clinical Applications of Mass Spectrometry Methods and Protocols
Metabolic*
Sequencing
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Sources: positiveexposure.org, rarechromo.org, globalgenes.org
Fragile X
22q deletion
Down syndrome
Creatine
transporter
deficiency 16p11.2 deletion
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Sources: Genetics Home Reference
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Source: Genetics Home Reference
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Sources Genetics Home Reference
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Sources: Genetics Home Reference, OMIM
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Source: Genetics Home Reference
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Sources: positiveexposure.org, rarechromo.org, globalgenes.org
Fragile XFragile X
testing
22q deletionCMA
Down syndromeKaryotype
Creatine
transporter
deficiencyMetabolic
Sequencing
16p11.2 deletionCMA
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Harrington et al, Clinical Pediatrics, 2018
Chen et al., Genetics in Medicine, 2012
Hanish et al., J Spec Pediatr Nursing, 2018
Johannessen et al., Int J Mol Sci, 2017
Xu et al., Autism Research and Treatment, 2016
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Harrington et al, Clinical Pediatrics, 2018
Chen et al., Genetics in Medicine, 2012
Hanish et al., J Spec Pediatr Nursing, 2018
Johannessen et al., Int J Mol Sci, 2017
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Sources: wpspublish.com, sciencemag.org
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