Found: 30
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Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 ( DAX1).
- Published in:
- Human Genetics, 2007, v. 122, n. 1, p. 63, doi. 10.1007/s00439-007-0373-8
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- Publication type:
- Article
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 2055, doi. 10.1093/hmg/ddt056
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- Publication type:
- Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
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- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
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- Article
The Newfoundland population: a unique resource for genetic investigation of complex diseases.
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- Human Molecular Genetics, 2004, v. 13, n. 12, p. 1287, doi. 10.1093/hmg/ddh143
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- Publication type:
- Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 97, doi. 10.1038/nature10406
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- Article
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 293, doi. 10.1038/ejhg.2010.210
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- Article
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192
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- Publication type:
- Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
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- 2009
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- Correction notice
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231
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- Publication type:
- Article
Bayesian Small Area Cluster Analysis of Neural Tube Defects in Newfoundland.
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- Canadian Journal of Public Health, 2006, v. 97, n. 5, p. 393, doi. 10.1007/bf03405349
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- Publication type:
- Article
High resolution genomic analyses of a clinically defined autism spectrum disorder cohort.
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- International Journal of Developmental Neuroscience, 2015, v. 47, p. 76, doi. 10.1016/j.ijdevneu.2015.04.208
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- Article
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 1, p. 35, doi. 10.1159/000441843
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- Article
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 5, p. 268, doi. 10.1002/ajmg.b.32785
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- Publication type:
- Article
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.
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- Respiratory Research, 2012, v. 13, n. 8, p. 1, doi. 10.1186/1465-9921-13-64
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- Publication type:
- Article
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.
- Published in:
- 2012
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- Publication type:
- journal article
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0777-z
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- Publication type:
- Article
To Paint a New Picture: Into the Lives of Eldest Siblings of Separated Families during COVID-19.
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- International Journal of Multidisciplinary: Applied Business & Education Research, 2023, v. 4, n. 7, p. 2180, doi. 10.11594/ijmaber.04.07.03
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- Publication type:
- Article
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8
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- Publication type:
- Article
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.
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- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9238-9
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- Publication type:
- Article
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
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- Journal of Pathology, 2011, v. 225, n. 1, p. 12, doi. 10.1002/path.2941
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- Article
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
- Published in:
- Human Genetics, 2015, v. 134, n. 2, p. 191, doi. 10.1007/s00439-014-1513-6
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- Publication type:
- Article
Rare Copy Number Variation Discovery and Cross- Disorder Comparisons Identify Risk Genes for ADHD.
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- Science Translational Medicine, 2011, v. 3, n. 95, p. 1, doi. 10.1126/scitranslmed.3002464
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- Publication type:
- Article
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 111, doi. 10.1186/1471-2350-13-111
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- Publication type:
- Article
Incidence and cohort prevalence for autism spectrum disorders in the Avalon Peninsula, Newfoundland and Labrador.
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- CMAJ Open, 2015, v. 3, n. 3, p. E276, doi. 10.9778/cmajo.20140056
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- Publication type:
- Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700
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- Publication type:
- Article
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1151
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- Publication type:
- Article
The Newfoundland population: a unique resource for genetic investigation of complex diseases†Newfound Genomics is a private genomics company based in Newfoundland. Sylvia Bartlett and Lynette Peddle are laboratory scientists at Newfound Genomics. Dr ...
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 2, p. 167, doi. 10.1093/hmg/ddg257
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- Publication type:
- Article
The Newfoundland population: a unique resource for genetic investigation of complex diseases†.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R167, doi. 10.1093/hmg/ddg257
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- Publication type:
- Article
Non-syndromic progressive hearingloss DFNA38 is caused by heterozygous missensemutation in the Wolfram syndrome gene WFS1.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2509, doi. 10.1093/hmg/10.22.2509
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- Publication type:
- Article
Autism spectrum disorder: advances in evidence-based practice.
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- Canadian Medical Association Journal (CMAJ), 2014, v. 186, n. 7, p. 509, doi. 10.1503/cmaj.121756
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- Publication type:
- Article