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1 . Academic Journal
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report
저자
by
Jialun Pang
;
Fanjuan Kong
;
Wanglan Tang
;
Hui Xi
;
Na Ma
, et al.
소스
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
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7 . Academic Journal
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
저자
by
Ying Peng
;
Lin Zhou
;
Jing Chen
;
Xiaoliang Huang
;
Jialun Pang
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases
저자
by
Na Ma
;
Zhenhua Zhu
;
Jiancheng Hu
;
Jialun Pang
;
Shuting Yang
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Identification of rare thalassemia variants using third-generation sequencing
저자
by
Qin Liu
;
Qianting Chen
;
Zonglei Zhang
;
Shiyi Peng
;
Jing Liu
, et al.
소스
Frontiers in Genetics, Vol 13 (2023)
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7 . Academic Journal
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism
저자
by
Na Ma
;
Hui Xi
;
Jing Chen
;
Ying Peng
;
Zhengjun Jia
, et al.
소스
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family
저자
by
Hui Xi
;
Ying Peng
;
Wanqin Xie
;
Jialun Pang
;
Na Ma
, et al.
소스
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
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7 . Academic Journal
Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome
저자
by
Si He
;
Hui Xi
;
Jing Chen
;
Dan Wang
;
Jialun Pang
, et al.
소스
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
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7 . Academic Journal
Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases
저자
by
Ying Peng
;
Shuting Yang
;
Xiaoliang Huang
;
Jialun Pang
;
Jing Liu
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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7 . Academic Journal
Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review
저자
by
Jing Liu
;
Qin Liu
;
Shuting Yang
;
Na Ma
;
Jialun Pang
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Open Access (Wiley)
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7 . Academic Journal
Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
저자
by
Ying Peng
;
Changbiao Liang
;
Hui Xi
;
Shuting Yang
;
Jiancheng Hu
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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