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American Journal of Medical Genetics Part A - ResearchHub

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American Journal of Medical Genetics Part A

1552-4825 · Wiley

6 verified public works

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Correction to “Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics”

2026 · 0 citations

Clinical Spectrum, Genetic Profile, and Genotype–Phenotype Correlations in Microvillus Inclusion Disease: A Systematic Review

2026 · 0 citations

Expanding the Phenotypic Spectrum of TXNDC15 ‐Related Ciliopathies to Include Joubert Syndrome

2026 · 0 citations

Fatal Dilated Cardiomyopathy and Monogenic Diabetes Mellitus as SMPD4 ‐Related Disorder

2026 · 0 citations

Computer‐Aided Facial Analysis and Non‐Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study

2026 · 0 citations

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

2026 · 0 citations

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