M. Wang

发表

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

W. Robinson, A. Schinzel, D. Kotzot, 1996, Genomics.

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

W. Robinson, A. Schinzel, M. Petersen, 1999, American journal of medical genetics.

Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X‐Linked Syndrome in China

M. Wang, F. Xu, Y. An, 2011, Scandinavian journal of immunology.

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

Ann M. Johnson, K. Klinger, P. Gabow, 1999, American journal of human genetics.

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

R. Pagon, V. D. Der Kaloustian, Guimei Zhou, 2000, American journal of medical genetics.

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

C. Clericuzio, M. Wang, M. Godfrey, 1996, American journal of human genetics.

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.

S. Kahler, Y. T. Chen, P. Kishnani, 1996, Journal of medical genetics.

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

S. Langlois, W. Robinson, M. V. Van Allen, 1999, American journal of medical genetics.

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

W. L. Robertson, J. Han, J. Becker, 1993, American journal of human genetics.

Clinical Characteristics and Molecular Analysis of 21 Chinese Children with Congenital Agammaglobulinemia

E. Liu, M. Wang, Z. Zhang, 2010, Scandinavian journal of immunology.

Clinical Features, STAT3 Gene Mutations and Th17 Cell Analysis in Nine Children with Hyper‐IgE Syndrome in Mainland China

W. Liu, W. Tian, Xiaodong Zhao, 2013, Scandinavian journal of immunology.

Adamantinoma-like Ewing's sarcoma: genomic confirmation, phenotypic drift.

H. Dorfman, T. Seemayer, J. Neff, 1999, The American journal of surgical pathology.

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.

C. Price, M. Wang, K. Imaizumi, 1995, Human molecular genetics.

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

David R. Murdock, J. Lupski, R. Gibbs, 2013, Clinical genetics.

[Keratin 17 gene mutation in patients with steatocystoma multiplex].

G. Zhao, L. Hu, M. Wang, 2001, Zhonghua yi xue za zhi.

Prenatal and presymptomatic diagnosis of Marfan syndrome using fluorescence PCR and an automated sequencer.

M. Wang, M. Godfrey, 1998, Methods in molecular biology.

Mutational analysis of HOXA10 gene in Chinese patients with cryptorchidism

J. Liu, D. He, P. Lu, 2017, Andrologia.