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40 积分 2023-04-19 加入
Ten novelFBN2mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype
1个月前
已完结
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
1个月前
已完结
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
2个月前
已完结
Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy
2个月前
已完结
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)
2个月前
已完结
Strong association of de novo copy number mutations with sporadic schizophrenia
2个月前
已完结
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1
2个月前
已完结
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
3个月前
已完结
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
3个月前
已完结
Bilateral amastia in a female with X‐linked hypohidrotic ectodermal dysplasia
3个月前
已完结
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