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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiencyAthanasia Stoupa, Monica Malheiros Franca, Maha Abdulhadi-Atwan, et al.
Nature Genetics|May 7, 2024
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, et al.
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