Pages that link to "Q52712904"

The following pages link to An Organismal CNV Mutator Phenotype Restricted to Early Human Development. (Q52712904):

Displaying 24 items.

• Genomic disorders 20 years on-mechanisms for clinical manifestations (Q46300376) (← links)
• Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. (Q52562177) (← links)
• Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease (Q57180808) (← links)
• Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome (Q64096920) (← links)
• Integrating CNVs into meta-QTL identified GBP4 as positional candidate for adult cattle stature (Q64137853) (← links)
• Paternal exposure to benzo(a)pyrene induces genome-wide mutations in mouse offspring. (Q64890831) (← links)
• Preserving Genome Integrity During the Early Embryonic DNA Replication Cycles. (Q64899375) (← links)
• Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism. (Q64949793) (← links)
• Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells. (Q64968384) (← links)
• Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements (Q89120526) (← links)
• Genomic Earthquakes in the Human Germline and Their Ramifications (Q89539110) (← links)
• Patterns of somatic structural variation in human cancer genomes (Q89556913) (← links)
• A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report (Q90114964) (← links)
• Novel insights into the genetics of early human development: PGT as a catalyst for reform (Q90703303) (← links)
• In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages (Q91106778) (← links)
• Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants (Q91819726) (← links)
• Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. (Q92083775) (← links)
• Chromosome segregation errors generate a diverse spectrum of simple and complex genomic rearrangements (Q92129424) (← links)
• Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing (Q92213047) (← links)
• 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements (Q92229368) (← links)
• Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome (Q92863416) (← links)
• Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations (Q92947136) (← links)
• Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report (Q99582387) (← links)
• Efficient detection of copy-number variations using exome data: batch- and sex-based analyses (Q101141395) (← links)