The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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The novel and recurrent variants in exon 31 of CREBBP in Japanese
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Whole exome sequencing in congenital pain insensitivity identifies
The novel and recurrent variants in exon 31 of CREBBP in Japanese
The missing link between genetic association and regulatory
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
Community‐based recruitment and exome sequencing indicates high
The novel and recurrent variants in exon 31 of CREBBP in Japanese
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