Pages that link to "Q35578481"

The following pages link to Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia (Q35578481):

Displaying 20 items.

• Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders (Q28279421) (← links)
• Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability (Q34572542) (← links)
• Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia (Q35581878) (← links)
• Ribosomal protein gene deletions in Diamond-Blackfan anemia. (Q35631339) (← links)
• The genetics of microdeletion and microduplication syndromes: an update. (Q35765523) (← links)
• Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. (Q36190985) (← links)
• A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability (Q36454715) (← links)
• De novo copy number variants are associated with congenital diaphragmatic hernia (Q36968629) (← links)
• High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. (Q38500985) (← links)
• Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia (Q50715864) (← links)
• The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia. (Q52332060) (← links)
• Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci. (Q52885733) (← links)
• Chromosome 5q33 deletions associated with congenital heart defects. (Q52940328) (← links)
• SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. (Q53473385) (← links)
• An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review (Q57748214) (← links)
• The Genetic Landscape of Diamond-Blackfan Anemia (Q60683707) (← links)
• Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies (Q60913117) (← links)
• Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus (Q64114791) (← links)
• Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network. (Q64994553) (← links)
• Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report (Q90418370) (← links)