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Search Results to Emily G. Farrow

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Farrow, Emily

One or more keywords matched the following items that are connected to Farrow, Emily

Item Type	Name
Concept	Acute Disease
Concept	Autoimmune Diseases
Concept	Bone Diseases, Developmental
Concept	Bone Diseases, Metabolic
Concept	Brain Diseases
Concept	Chronic Disease
Concept	Disease Models, Animal
Concept	Hypothalamic Diseases
Concept	Infant, Premature, Diseases
Concept	Leigh Disease
Concept	Vitamin B Complex
Concept	Genetic Predisposition to Disease
Concept	Hereditary Central Nervous System Demyelinating Diseases
Concept	Mitochondrial Diseases
Concept	Genetic Diseases, Inborn
Concept	Rare Diseases
Concept	Genetic Diseases, X-Linked
Concept	Electron Transport Complex I
Concept	Asymptomatic Diseases
Concept	Polycomb Repressive Complex 2
Academic Article	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Academic Article	A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Academic Article	Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article	Clinical genome sequencing in an unbiased pediatric cohort.
Academic Article	Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Academic Article	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article	GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.
Academic Article	Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Academic Article	Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Academic Article	Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Academic Article	On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Academic Article	Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.
Academic Article	A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.
Academic Article	Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation.
Academic Article	A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
Academic Article	The role of DMP1 in autosomal recessive hypophosphatemic rickets.
Academic Article	CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Academic Article	Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Academic Article	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Academic Article	Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
Academic Article	Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Academic Article	Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
Academic Article	Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
Academic Article	De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Academic Article	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Academic Article	ITGB2 (Integrin ?2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis.
Academic Article	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article	Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Academic Article	Can endoscopic follow-up after acute diverticulitis be rationalised?
Academic Article	Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Academic Article	Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
Academic Article	Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.

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