Pages that link to "Q28073446"
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The following pages link to New insights into the generation and role of de novo mutations in health and disease (Q28073446):
Displaying 50 items.
- (Q28395022) (redirect page) (← links)
- APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases (Q36325304) (← links)
- The Israeli National Genetic database: a 10-year experience (Q37708424) (← links)
- The New Genomics: What Molecular Databases Can Tell us About Human Population Variation and Endocrine Disease (Q38789207) (← links)
- Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms. (Q38847165) (← links)
- Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old. (Q39129029) (← links)
- PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts (Q39206695) (← links)
- Human disease genomics: from variants to biology (Q42326554) (← links)
- Canvas SPW: calling de novo copy number variants in pedigrees (Q42696247) (← links)
- EpiDenovo: a platform for linking regulatory de novo mutations to developmental epigenetics and diseases. (Q47111332) (← links)
- Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. (Q47125495) (← links)
- Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing. (Q47445785) (← links)
- Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders (Q47747851) (← links)
- Variation in Akt protein kinases in human populations. (Q47771376) (← links)
- Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder (Q47967143) (← links)
- A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. (Q49617164) (← links)
- The complex genetics of human insulin-like growth factor 2 are not reflected in public databases (Q50134100) (← links)
- Parental age and childhood cancer risk: A Danish population-based registry study (Q50576090) (← links)
- Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing. (Q52372462) (← links)
- Similarity and Variation in the Insulin-like Growth Factor 2 - H19 Locus in Primates. (Q52618444) (← links)
- Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene. (Q52841498) (← links)
- Precise detection of de novo single nucleotide variants in human genomes. (Q53824685) (← links)
- Somatic clones heterozygous for recessive disease alleles of BMPR1A exhibit unexpected phenotypes in Drosophila. (Q55210240) (← links)
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications (Q56927575) (← links)
- Navigating the nuances of clinical sequence variant interpretation in Mendelian disease (Q57210317) (← links)
- Family-based germline sequencing in children with cancer (Q57285766) (← links)
- A reference haplotype panel for genome-wide imputation of short tandem repeats (Q57798860) (← links)
- Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia (Q58606293) (← links)
- Growth patterns from birth to 24 months in Chinese children: a birth cohorts study across China (Q58609468) (← links)
- Insights Into Mutation Variation in Lithuanian Exome (Q58781272) (← links)
- Length variations within the retrotransposon of canine : correlating genotype with phenotype (Q58801365) (← links)
- Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas (Q58802662) (← links)
- Comparison of three variant callers for human whole genome sequencing (Q60302300) (← links)
- Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family (Q60304954) (← links)
- Quantifying promoter-specific Insulin-like Growth Factor 1 gene expression by interrogating public databases (Q60921968) (← links)
- iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes (Q60927107) (← links)
- DNA Damage and Repair in Human Reproductive Cells (Q60939479) (← links)
- Genetic Instability and Chromatin Remodeling in Spermatids (Q61818073) (← links)
- Insights into genetics, human biology and disease gleaned from family based genomic studies (Q61855138) (← links)
- Roadmap for a precision-medicine initiative in the Nordic region (Q63352644) (← links)
- A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings (Q64040985) (← links)
- Insights into genetics, human biology and disease gleaned from family based genomic studies (Q64041297) (← links)
- Overlooked roles of DNA damage and maternal age in generating human germline mutations (Q64095472) (← links)
- Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period (Q64229508) (← links)
- Variation in the repulsive guidance molecule family in human populations (Q64236014) (← links)
- De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta (Q64265246) (← links)
- The role of de novo mutations in adult-onset neurodegenerative disorders. (Q64814697) (← links)
- Massive variation of short tandem repeats with functional consequences across strains of Arabidopsis thaliana. (Q64881524) (← links)
- Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation (Q83229123) (← links)
- Double hits in schizophrenia (Q88692014) (← links)