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1 . Academic Journal
Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study
저자
by
Yirou Wang
;
Yufei Xu
;
Yao Chen
;
Yabin Hu
;
Qun Li
, et al.
소스
BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)
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7 . Academic Journal
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
저자
by
Biyun Feng
;
Xin Li
;
Qianwen Zhang
;
Yirou Wang
;
Shili Gu
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study
저자
by
Yijun Tang
;
Yao Chen
;
Jiayi Wang
;
Qianwen Zhang
;
Yirou Wang
, et al.
소스
Endocrine Connections, Vol 12, Iss 10, Pp 1-23 (2023)
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7 . Academic Journal
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China
저자
by
Qianwen Zhang
;
Guoying Chang
;
Yijun Tang
;
Shili Gu
;
Yu Ding
, et al.
소스
BMC Pediatrics, Vol 23, Iss 1, Pp 1-8 (2023)
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7 . Academic Journal
Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants
저자
by
Yu Ding
;
Zhe Li
;
Qianwen Zhang
;
Niu Li
;
Guoying Chang
, et al.
소스
Frontiers in Endocrinology, Vol 14 (2023)
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7 . Academic Journal
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth
저자
by
Biyun Feng
;
Guoying Chang
;
Qianwen Zhang
;
Xin Li
;
Yijun Tang
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
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7 . Academic Journal
Difference of Precocious Puberty Between Before and During the COVID-19 Pandemic: A Cross-Sectional Study Among Shanghai School-Aged Girls
저자
by
Yao Chen
;
Jianyong Chen
;
Yijun Tang
;
Qianwen Zhang
;
Yirou Wang
, et al.
소스
Frontiers in Endocrinology, Vol 13 (2022)
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7 . Academic Journal
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
저자
by
Qianwen Zhang
;
Yu Ding
;
Biyun Feng
;
Yijun Tang
;
Yao Chen
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature
저자
by
Liying Sun
;
Qianwen Zhang
;
Qun Li
;
Yijun Tang
;
Yirou Wang
, et al.
소스
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
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7 . Academic Journal
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
저자
by
Niu Li
;
Yirou Wang
;
Yu Yang
;
Pengpeng Wang
;
Hui Huang
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
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