Found: 64
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Linked-read sequencing for detecting short tandem repeat expansions.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13024-4
- By:
- Publication type:
- Article
Is it time to re‐think how we look for teratogenic effects in exposure cohort studies?
- Published in:
- Paediatric & Perinatal Epidemiology, 2024, v. 38, n. 6, p. 532, doi. 10.1111/ppe.13061
- By:
- Publication type:
- Article
After genomic testing results: Parents' long‐term views.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 82, doi. 10.1002/jgc4.1454
- By:
- Publication type:
- Article
New developmental syndromes: Understanding the family experience.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 202, doi. 10.1002/jgc4.1121
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- Publication type:
- Article
Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 1, p. 10, doi. 10.1007/s10897-018-0281-1
- By:
- Publication type:
- Article
Non-optic glioma in adults and children with neurofibromatosis 1.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
- By:
- Publication type:
- Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 75, doi. 10.1186/1750-1172-7-75
- By:
- Publication type:
- Article
Prevalence of dental caries in children with neurofibromatosis 1.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study.
- Published in:
- Journal of Telemedicine & Telecare, 2023, v. 29, n. 4, p. 318, doi. 10.1177/1357633X20982737
- By:
- Publication type:
- Article
Renpenning syndrome in a female.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 498, doi. 10.1002/ajmg.a.61451
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- Publication type:
- Article
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3087, doi. 10.1002/ajmg.a.38400
- By:
- Publication type:
- Article
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2916, doi. 10.1002/ajmg.a.37669
- By:
- Publication type:
- Article
Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1518, doi. 10.1002/ajmg.a.37068
- By:
- Publication type:
- Article
Update from the 2013 international neurofibromatosis conference.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2969, doi. 10.1002/ajmg.a.36754
- By:
- Publication type:
- Article
'I want to know what's in Pandora's box': Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2519, doi. 10.1002/ajmg.a.35554
- By:
- Publication type:
- Article
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2606, doi. 10.1002/ajmg.a.35568
- By:
- Publication type:
- Article
Fetal karyotype following ascertainment of fetal anomalies by ultrasound.
- Published in:
- Prenatal Diagnosis, 1987, v. 7, n. 8, p. 551, doi. 10.1002/pd.1970070804
- By:
- Publication type:
- Article
Anatomic correlates of ultrasonographic prenatal diagnosis.
- Published in:
- 1986
- By:
- Publication type:
- journal article
Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02447-3
- By:
- Publication type:
- Article
The Sensitivity of Massively Parallel Sequencing for Detecting Candidate Infectious Agents Associated with Human Tissue.
- Published in:
- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019838
- By:
- Publication type:
- Article
S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas.
- Published in:
- Journal of Neuroscience Research, 2011, v. 89, n. 9, p. 1451, doi. 10.1002/jnr.22654
- By:
- Publication type:
- Article
Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13023-018-0811-9
- By:
- Publication type:
- Article
Vertebral scalloping in neurofibromatosis type 1: a quantitative approach.
- Published in:
- Canadian Journal of Surgery, 2002, v. 45, n. 3, p. 181
- By:
- Publication type:
- Article
Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Patterns of associations of clinical features in neurofibromatosis 1 (NF1).
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 289, doi. 10.1007/s00439-002-0871-7
- By:
- Publication type:
- Article
Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy.
- Published in:
- CNS Drugs, 2009, v. 23, n. 6, p. 493, doi. 10.2165/00023210-200923060-00004
- By:
- Publication type:
- Article
Early primary tooth eruption in neurofibromatosis 1 individuals.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 792, doi. 10.1038/ejhg.2013.248
- By:
- Publication type:
- Article
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20
- By:
- Publication type:
- Article
Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.
- Published in:
- Journal of Nursing Scholarship, 2016, v. 48, n. 3, p. 265, doi. 10.1111/jnu.12207
- By:
- Publication type:
- Article
Genomic newborn screening: public health policy considerations and recommendations.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0247-4
- By:
- Publication type:
- Article
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
- Published in:
- BMC Medical Genomics, 2011, v. 4, n. 1, p. 25, doi. 10.1186/1755-8794-4-25
- By:
- Publication type:
- Article
Impact of BRCA Mutations on Female Fertility and Offspring Sex Ratio.
- Published in:
- American Journal of Human Biology, 2010, v. 22, n. 2, p. 201, doi. 10.1002/ajhb.20978
- By:
- Publication type:
- Article
White matter is increased in the brains of adults with neurofibromatosis 1.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Alterations in brain morphology by MRI in adults with neurofibromatosis 1.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 9, p. 1239
- By:
- Publication type:
- Article
Bob Brent: Medical expert, expert medical witness, and expert on medical expert witnessing.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 14, p. 1261, doi. 10.1002/bdr2.2150
- By:
- Publication type:
- Article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3671-0
- By:
- Publication type:
- Article
Decreased bone mineral density in patients with neurofibromatosis 1.
- Published in:
- Osteoporosis International, 2005, v. 16, n. 9, p. 1161, doi. 10.1007/s00198-005-1940-2
- By:
- Publication type:
- Article
Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 7, p. e2420842, doi. 10.1001/jamanetworkopen.2024.20842
- By:
- Publication type:
- Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.961
- By:
- Publication type:
- Article
The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 592, doi. 10.1002/mgg3.410
- By:
- Publication type:
- Article
Key Implications of Data Sharing in Pediatric Genomics.
- Published in:
- JAMA Pediatrics, 2018, v. 172, n. 5, p. 476, doi. 10.1001/jamapediatrics.2017.5500
- By:
- Publication type:
- Article
MRI based volumetric measurements of vestibular schwannomas in patients with neurofibromatosis type 2: comparison of three different software tools.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68489-y
- By:
- Publication type:
- Article
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 19, p. 3266, doi. 10.1093/hmg/ddaa202
- By:
- Publication type:
- Article
The UBC Medical Curriculum and the Genomic Revolution.
- Published in:
- UBC Medical Journal, 2013, v. 4, n. 2, p. 6
- By:
- Publication type:
- Article
Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis-Reply.
- Published in:
- 2020
- By:
- Publication type:
- Letter