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Molecular Syndromology
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Official Journal of
RE(ACT) Community
Latest
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Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome
Detecting a Novel
NOTCH3
Variant in Patients with Suspected CADASIL: A Single Center Study
Association of
ABCA13
Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders
TPP1
Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2
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