Search details
1.
Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.
Am J Med Genet A
; : e63626, 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38591849
2.
Clinical significance of nonerythrocytic spectrin Beta 1 (SPTBN1) in human kidney renal clear cell carcinoma and uveal melanoma: a study based on Pan-Cancer Analysis.
BMC Cancer
; 23(1): 303, 2023 Apr 03.
Article
in English
| MEDLINE | ID: mdl-37013511
3.
Development and validation of a nomogram based on common biochemical indicators for survival prediction of children with high-risk neuroblastoma: A valuable tool for resource-limited hospitals.
BMC Pediatr
; 23(1): 426, 2023 08 26.
Article
in English
| MEDLINE | ID: mdl-37633889
4.
[Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(6): 630-633, 2022 Jun 10.
Article
in Zh
| MEDLINE | ID: mdl-35773769
5.
[Analysis of SSR4 gene variant in a child with congenital glycosylation type 1y in conjunct with congenital dysplasia of external auditory canal].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 727-730, 2022 Jul 10.
Article
in Zh
| MEDLINE | ID: mdl-35810430
6.
DNA index as prognostic factor in childhood acute lymphoblastic leukemia in the COG-TARGET database.
BMC Cancer
; 21(1): 813, 2021 Jul 15.
Article
in English
| MEDLINE | ID: mdl-34266412
7.
Eltrombopag as first-line treatment for thrombocytopenia among paediatric patients after allogeneic haematopoietic stem cell transplantation.
Br J Clin Pharmacol
; 87(4): 2023-2031, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33080064
8.
[Analysis of a child with congenital muscular dystrophy due to a novel variant of the LMNA gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 857-860, 2021 Sep 10.
Article
in Zh
| MEDLINE | ID: mdl-34487530
9.
[Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(6): 561-564, 2021 Jun 10.
Article
in Zh
| MEDLINE | ID: mdl-34096026
10.
[Clinical and genetic analysis of a family with autosomal dominant-familial Mediterranean fever].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 719-722, 2021 Aug 10.
Article
in Zh
| MEDLINE | ID: mdl-34365609
11.
Rituximab may cause higher mortality in young autoimmune disease patients with rituximab-induced interstitial lung disease: A case report and systematic review of the literature.
Int J Clin Pharmacol Ther
; 58(12): 740-748, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32909538
12.
[Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(8): 823-827, 2020 Aug 10.
Article
in Zh
| MEDLINE | ID: mdl-32761587
13.
[Identification of a novel frameshift variant in the SRCAP gene of a child with Floating-Harbor syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(10): 1124-1127, 2020 Oct 10.
Article
in Zh
| MEDLINE | ID: mdl-32924116
14.
[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 535-538, 2020 May 10.
Article
in Zh
| MEDLINE | ID: mdl-32335880
15.
[Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(6): 641-644, 2020 Jun 10.
Article
in Zh
| MEDLINE | ID: mdl-32472542
16.
[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 12-16, 2020 Jan 10.
Article
in Zh
| MEDLINE | ID: mdl-31922587
17.
[Analysis of HEXB gene mutations in an infant with Sandhoff disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(9): 930-934, 2019 Sep 10.
Article
in Zh
| MEDLINE | ID: mdl-31515793
18.
[Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(4): 314-317, 2019 Apr 10.
Article
in Zh
| MEDLINE | ID: mdl-30950015
19.
X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis.
Pediatr Hematol Oncol
; 34(8): 428-434, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-29303623
20.
[MECP2 duplication syndrome: a clinical analysis of three cases and literature review].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(5): 489-493, 2017 May.
Article
in Zh
| MEDLINE | ID: mdl-28506334