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Longitudinal echocardiography in pediatric patients with hypermobile Ehlers‐Danlos syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63844
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- Article
Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1451746
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- Article
A qualitative assessment of parental experiences with false‐positive newborn screening for Krabbe disease.
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- Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 252, doi. 10.1002/jgc4.1480
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- Article
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. 387, doi. 10.1093/brain/awac244
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- Article
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2995, doi. 10.1002/ajmg.a.38489
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- Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
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- Article
Genetic knowledge and attitudes of parents of children with congenital heart defects.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3069, doi. 10.1002/ajmg.a.36763
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- Article
Severe hypertrophic cardiomyopathy in Noonan syndrome-consider sequencing genes encoding sarcomeric proteins.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 230, doi. 10.1002/ajmg.a.35669
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- Article
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3002, doi. 10.1002/ajmg.a.34336
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- Article
Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.
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- Kidney International, 2011, v. 79, n. 1, p. 120, doi. 10.1038/ki.2010.354
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- Article
Impact of Mendelian inheritance in cardiovascular disease.
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- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 122, doi. 10.1111/j.1749-6632.2010.05791.x
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- Article
Contactin 4 as an autism susceptibility locus.
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- Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 3, p. 189, doi. 10.1002/aur.184
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- Article
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
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- Autism Research: Official Journal of the International Society for Autism Research, 2010, v. 3, n. 3, p. 137, doi. 10.1002/aur.132
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- Article
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
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- PLoS Genetics, 2020, v. 16, n. 5, p. 1, doi. 10.1371/journal.pgen.1008639
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- Article
General anesthesia with a native airway for patients with mucopolysaccharidosis type III.
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- Pediatric Anesthesia, 2017, v. 27, n. 4, p. 370, doi. 10.1111/pan.13108
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- Article
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.
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- Journal of Clinical Medicine, 2023, v. 12, n. 1, p. 225, doi. 10.3390/jcm12010225
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- Article
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.
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- Case Reports in Pediatrics, 2013, p. 1, doi. 10.1155/2013/354314
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- Article
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA<sub>A</sub> receptor subunit gene cluster.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 105, doi. 10.1038/ejhg.2013.99
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- Article
Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).
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- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 811, doi. 10.1038/ejhg.2008.255
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- Article
Genome-wide linkage scan for spontaneous DZ twinning.
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- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 117, doi. 10.1038/sj.ejhg.5201522
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- Article
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
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- Pediatric Cardiology, 2019, v. 40, n. 8, p. 1679, doi. 10.1007/s00246-019-02203-2
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- Article
Parental Knowledge and Attitudes Toward Hypertrophic Cardiomyopathy Genetic Testing.
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- Pediatric Cardiology, 2010, v. 31, n. 2, p. 195, doi. 10.1007/s00246-009-9583-2
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- Publication type:
- Article
Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase.
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- Pediatric Cardiology, 2009, v. 30, n. 4, p. 523, doi. 10.1007/s00246-008-9351-8
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- Article
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
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- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 65, doi. 10.1002/jmd2.12335
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- Article
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 56, doi. 10.1186/1755-8794-7-56
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- Article
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.
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- FEBS Journal, 2015, v. 282, n. 12, p. 2379, doi. 10.1111/febs.13286
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- Article
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
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- Clinical Genetics, 2021, v. 100, n. 6, p. 775, doi. 10.1111/cge.14052
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- Article
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.
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- PLoS ONE, 2024, v. 19, n. 9, p. 1, doi. 10.1371/journal.pone.0304514
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- Article
Germline Variant Interpretation in Children with Severe Sepsis.
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- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 312, doi. 10.1007/s10875-022-01388-1
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- Article
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
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- Journal of the American Heart Association, 2023, v. 12, n. 18, p. 1, doi. 10.1161/JAHA.123.029340
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- Article
Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.
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- Pediatric Nephrology, 2007, v. 22, n. 1, p. 52, doi. 10.1007/s00467-006-0295-z
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- Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
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- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283
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- Article
Rebuttal to the invited comment of Opitz and Carey.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2037, doi. 10.1002/ajmg.a.34112
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- Article
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
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- Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304
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- Article
Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects.
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- Human Mutation, 2013, v. 34, n. 9, p. 1226, doi. 10.1002/humu.22366
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- Article
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006165
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- Article
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
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- Human Molecular Genetics, 2010, v. 19, n. 2, p. 364, doi. 10.1093/hmg/ddp502
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- Article
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2886, doi. 10.1093/hmg/ddn187
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- Article
Familial co-occurrence of congenital heart defects follows distinct patterns.
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- European Heart Journal, 2018, v. 39, n. 12, p. 1015, doi. 10.1093/eurheartj/ehx314
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- Article
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
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- PLoS Genetics, 2022, v. 18, n. 6, p. 1, doi. 10.1371/journal.pgen.1010236
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- Article
Bicuspid Aortic Valve Disease with Early-Onset Complications: Characteristics and Aortic Outcomes.
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- Hearts, 2024, v. 5, n. 3, p. 253, doi. 10.3390/hearts5030018
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- Article
POLRMT mutations impair mitochondrial transcription causing neurological disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21279-0
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- Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
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- 2019
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- Correction Notice
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0623-0
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- Publication type:
- Article