Suchergebnisse - "Zhuang, Dan-Yan"

PubPharm (5)

1

Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis

enthalten in: Clinical chemistry | 2024

von Xie, M. | Zheng, Z. | Zhou, Y. | +13

2

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

enthalten in: Molecular genetics & genomic medicine | 2024

von Zhuang, D. | Sun, S. | Hu, Z. | +5

3

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

enthalten in: Molecular Genetics & Genomic Medicine | 2024

von Zhuang, D. | Sun, S. | Hu, Z. | +5

4

Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing

enthalten in: Frontiers in genetics | 2021

von Zhuang, D. | Ding, S. | Wang, F. | +5

5

Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I : an analysis of two families

enthalten in: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics | 2020

von Sun, W. | Zhuang, D. | Wang, Y. | +7

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