10 results on '"Yao, Ruen"'
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2. Defective Joint Development and Maintenance inGDF6‐Related Multiple Synostoses Syndrome
3. Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review
4. TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
5. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
6. Evaluation of copy number variant detection from panel-based next-generation sequencing data
7. Cutis laxa in a patient with 1p36 deletion syndrome
8. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
9. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children
10. Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Studies Related to Vincristine-Induced Peripheral Neuropathy in Chinese Pediatric ALL Patients.
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