Pages that link to "Q24615381"
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The following pages link to Targeted capture and massively parallel sequencing of 12 human exomes (Q24615381):
Displaying 50 items.
- OTX2 duplication is implicated in hemifacial microsomia (Q21090627) (← links)
- Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa (Q21090932) (← links)
- Extraordinary molecular evolution in the PRDM9 fertility gene (Q21091163) (← links)
- Exome sequencing identifies ZNF644 mutations in high myopia (Q21092428) (← links)
- Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene (Q21092439) (← links)
- Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient (Q21131287) (← links)
- RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family (Q21135360) (← links)
- Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases (Q21144939) (← links)
- Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia (Q21144959) (← links)
- Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease (Q21144974) (← links)
- Modernizing reference genome assemblies (Q21145769) (← links)
- Enrichment of sequencing targets from the human genome by solution hybridization (Q21183896) (← links)
- Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia (Q21184016) (← links)
- A comparative analysis of exome capture (Q21184017) (← links)
- Human genetics and genomics a decade after the release of the draft sequence of the human genome (Q21245451) (← links)
- Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies (Q21296841) (← links)
- Critical evaluation of imprinted gene expression by RNA-Seq: a new perspective (Q21563370) (← links)
- Human genome sequencing in health and disease (Q22065433) (← links)
- Analysis of genetic inheritance in a family quartet by whole-genome sequencing (Q22065898) (← links)
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing (Q22066282) (← links)
- The genetics of attention deficit/hyperactivity disorder in adults, a review (Q22251103) (← links)
- Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD (Q22252571) (← links)
- Personalized medicine: hope or hype? (Q24289193) (← links)
- Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling (Q24294774) (← links)
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations (Q24296941) (← links)
- Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia (Q24297970) (← links)
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy (Q24299464) (← links)
- KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron (Q24307394) (← links)
- Whole-exome-sequencing-based discovery of human FADD deficiency (Q24309135) (← links)
- Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair (Q24310583) (← links)
- Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome (Q24314885) (← links)
- Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development (Q24317590) (← links)
- A population-specific HTR2B stop codon predisposes to severe impulsivity (Q24319808) (← links)
- Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy (Q24339132) (← links)
- Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy (Q24863051) (← links)
- Analysis of the genome to personalize therapy for melanoma (Q24601008) (← links)
- Next-generation sequencing in aging research: emerging applications, problems, pitfalls and possible solutions (Q24602951) (← links)
- Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis (Q24605104) (← links)
- Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis (Q24607347) (← links)
- Exome sequencing identifies the cause of a mendelian disorder (Q24607742) (← links)
- Integrative analysis of the melanoma transcriptome (Q24608060) (← links)
- Clinical assessment incorporating a personal genome (Q24612653) (← links)
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (Q24622470) (← links)
- Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome (Q24626373) (← links)
- Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies (Q24626495) (← links)
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing (Q24628978) (← links)
- Genes and chronic obstructive pulmonary disease (Q24630805) (← links)
- Exome sequencing reveals VCP mutations as a cause of familial ALS (Q24631513) (← links)
- Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation (Q24651168) (← links)
- Novel bioinformatic developments for exome sequencing (Q24658618) (← links)