Zhigao Long

Chinese expert consensus on hematologic malignancy karyotyping

Zailin Yang, Shuang Chen, Mingyu Zhao, Fei Gao et autres

cn (code pays fourni par la source)

Importance-aware contrastive learning via semantically augmented instances for unsupervised sentence embeddings

Xin Ma, Hong Li, Jiawen Shi, Yi Zhang et autres

cn (code pays fourni par la source)

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Hui Guo, Tianyun Wang, Huidan Wu, Long Min et autres

Background: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the …

cn, us (code pays fourni par la source)

Additional file 6: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Hui Juan Guo, Tianyun Wang, Huidan Wu, Long Min et autres

Data 3. Validation results for MIS30- variants. (XLSX 139 kb)

Additional file 7: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Hui Juan Guo, Tianyun Wang, Huidan Wu, Long Min et autres

Data 4. Summary of DNMs detected in this study. (XLSX 25 kb)

Additional file 2: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Hui Juan Guo, Tianyun Wang, Huidan Wu, Long Min et autres

Data 1. QC for samples and genes. (XLSX 141 kb)

Additional file 5: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Hui Juan Guo, Tianyun Wang, Huidan Wu, Long Min et autres

Data 2. Validation results for LGD and MIS30+ variants. (XLSX 105 kb)

Additional file 11: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Hui Juan Guo, Tianyun Wang, Huidan Wu, Long Min et autres

Data 5. Summary of clinical information for some patients with DNMs. (XLSX 19 kb)

Quality control before chromosome detection in peripheral blood

Zhigao Long

The chromosome detection in peripheral blood of 1,863 patients in our hospital from January 2011 to June 2016 were analyzed. The quality control and precautions before chromosome detection in peripheral blood were reported as follows.

cn (code pays fourni par la source)

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Qi Tian, Yun Li, Rizwana Kousar, Hui Guo et autres

BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. METHODS: …

cn, pk (code pays fourni par la source)

Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature

Zhuo Li, Jing Liu, Haoxian Li, Ying Peng et autres

cn (code pays fourni par la source)

Disruption of Contactin 4 in two subjects with autism in Chinese population

Hui Guo, Guanglei Xun, Peng Yu, Xinying Xiang et autres

cn (code pays fourni par la source)