about
Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryosIdentification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome studyLinkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18.Contactin 4 as an autism susceptibility locusRefinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruptionNovel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European AImpact of Mendelian inheritance in cardiovascular disease.Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influencesA GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB.Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.Lifetime prevalence of sexual intercourse and contraception use at last sex among adolescents and young adults with congenital heart diseaseGenetic testing in autism: how much is enough?Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.Measuring genetic knowledge: a brief survey instrument for adolescents and adults.Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT.Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing.Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates.Understanding of informed consent by parents of children enrolled in a genetic biobank.Case 27-2002: late-onset infantile neuronal ceroid lipofuscinosis.A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency.Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.General anesthesia with a native airway for patients with mucopolysaccharidosis type III.
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Kim L McBride
@nl
Kim L McBride
@sl
Kim L. McBride
@en
Kim L. McBride
@es
type
label
Kim L McBride
@nl
Kim L McBride
@sl
Kim L. McBride
@en
Kim L. McBride
@es
prefLabel
Kim L McBride
@nl
Kim L McBride
@sl
Kim L. McBride
@en
Kim L. McBride
@es
P1053
A-5879-2008
P106
P1153
7006565397
P31
P3829
P496
0000-0002-8407-8942
P569
2000-01-01T00:00:00Z