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Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Mosaicism and the taxonomy of human disease.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006163
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- Publication type:
- Article
Allelic heterogeneity of Proteus syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005181
- By:
- Publication type:
- Article
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 303, doi. 10.1007/s00439-002-0892-2
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- Publication type:
- Article
Integrating pharmacogenetic information and clinical decision support into the electronic health record.
- Published in:
- Journal of the American Medical Informatics Association, 2014, v. 21, n. 3, p. 522, doi. 10.1136/amiajnl-2013-001873
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- Publication type:
- Article
Exome sequencing: the expert view.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 128, doi. 10.1186/gb-2011-12-9-128
- By:
- Publication type:
- Article
Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study.
- Published in:
- Public Health Genomics, 2023, v. 26, n. 1, p. 90, doi. 10.1159/000533356
- By:
- Publication type:
- Article
Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.
- Published in:
- BMC Medical Genomics, 2012, v. 5, n. 1, p. 45, doi. 10.1186/1755-8794-5-45
- By:
- Publication type:
- Article
Evidence for Decreased Growth Hormone in Patients with Hypothalamic Hamartoma due to Pallister-Hall Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 2, p. 141
- By:
- Publication type:
- Article
Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1582, doi. 10.1002/jgc4.1424
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- Publication type:
- Article
Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 11, doi. 10.1002/jgc4.1378
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- Publication type:
- Article
Hedgehog Signaling Regulates Sensory Cell Formation and Auditory Function in Mice and Humans.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 29, p. 7350, doi. 10.1523/JNEUROSCI.0312-08.2008
- By:
- Publication type:
- Article
The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling.
- Published in:
- FASEB Journal, 2011, v. 25, n. 5, p. 1596, doi. 10.1096/fj.10-169771
- By:
- Publication type:
- Article
Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-198
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- Publication type:
- Article
Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-253
- By:
- Publication type:
- Article
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.
- Published in:
- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04090-y
- By:
- Publication type:
- Article
SomatoSim: precision simulation of somatic single nucleotide variants.
- Published in:
- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04024-8
- By:
- Publication type:
- Article
Automated Selection of Short Tandem Repeat Polymorphism Markers for Whole Genome Screening for Segmental Aneusomy.
- Published in:
- Human Heredity, 1997, v. 47, n. 2, p. 76, doi. 10.1159/000154395
- By:
- Publication type:
- Article
A genomic view of mosaicism and human disease.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A genomic view of mosaicism and human disease.
- Published in:
- Nature Reviews Genetics, 2013, v. 14, n. 5, p. 307, doi. 10.1038/nrg3424
- By:
- Publication type:
- Article
Next-generation sequencing in the clinic: are we ready?
- Published in:
- Nature Reviews Genetics, 2012, v. 13, n. 11, p. 818, doi. 10.1038/nrg3357
- By:
- Publication type:
- Article
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
- Published in:
- Annals of the American Thoracic Society, 2022, v. 19, n. 11, p. 1871, doi. 10.1513/AnnalsATS.202111-1214OC
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- Publication type:
- Article
DENND5B Regulates Intestinal Triglyceride Absorption and Body Mass.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40296-0
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- Publication type:
- Article
Databases of genomic variation and phenotypes: existing resources and future needs.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. R1, p. R27, doi. 10.1093/hmg/ddt384
- By:
- Publication type:
- Article
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1773, doi. 10.1093/hmg/ddm125
- By:
- Publication type:
- Article
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Reporting Genomic Sequencing Results to Ordering Clinicians Incidental, but Not Exceptional.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
- Published in:
- Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
- By:
- Publication type:
- Article
Genomic screening and genomic diagnostic testing—two very different kettles of fish.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0696-9
- By:
- Publication type:
- Article
Research participants' attitudes towards the confidentiality of genomic sequence information.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 964, doi. 10.1038/ejhg.2013.276
- By:
- Publication type:
- Article
The role of future-oriented affect in engagement with genomic testing results.
- Published in:
- Journal of Behavioral Medicine, 2022, v. 45, n. 1, p. 103, doi. 10.1007/s10865-021-00253-7
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- Publication type:
- Article
Dyadic concordance and associations of beliefs with intentions to learn carrier results from genomic sequencing.
- Published in:
- Journal of Behavioral Medicine, 2021, v. 44, n. 6, p. 860, doi. 10.1007/s10865-021-00222-0
- By:
- Publication type:
- Article
Anaesthesia recommendations for Pallister-Hall syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 7/8, p. 1, doi. 10.19224/ai2022.S242
- By:
- Publication type:
- Article
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.
- Published in:
- JAMA: Journal of the American Medical Association, 2018, v. 320, n. 18, p. 1929, doi. 10.1001/jama.2018.14900
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- Publication type:
- Article
Long QT Syndrome and Potentially Pathogenic Genetic Variants.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 261, doi. 10.1038/ejhg.2012.179
- By:
- Publication type:
- Article
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1213, doi. 10.1038/ejhg.2011.123
- By:
- Publication type:
- Article
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5376
- By:
- Publication type:
- Article
Orphan Tests.
- Published in:
- Cambridge Quarterly of Healthcare Ethics, 1996, v. 5, n. 2, p. 300, doi. 10.1017/S0963180100007076
- By:
- Publication type:
- Article
Genethics.
- Published in:
- Cambridge Quarterly of Healthcare Ethics, 1995, v. 4, n. 3, p. 387, doi. 10.1017/S0963180100006150
- By:
- Publication type:
- Article
Exome sequencing makes medical genomics a reality.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 13, doi. 10.1038/ng0110-13
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- Publication type:
- Article
Phenotype matters.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 323, doi. 10.1038/ng0404-323
- By:
- Publication type:
- Article
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321
- By:
- Publication type:
- Article
Acinar Cell Apoptosis in Serpini2-Deficient Mice Models Pancreatic Insufficiency.
- Published in:
- PLoS Genetics, 2005, v. 1, n. 3, p. 369, doi. 10.1371/journal.pgen.0010038
- By:
- Publication type:
- Article
A Limited Form of Proteus Syndrome With Bilateral Plantar Cerebriform Collagenomas and Varicose Veins Secondary to a Mosaic AKT1 Mutation.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 9, p. 990, doi. 10.1001/jamadermatol.2013.10368
- By:
- Publication type:
- Article
Dermatologic findings in individuals with genetically confirmed Proteus syndrome.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 4, p. 794, doi. 10.1111/pde.14624
- By:
- Publication type:
- Article
A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 565, doi. 10.1002/ajmg.c.31744
- By:
- Publication type:
- Article
Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 571, doi. 10.1002/ajmg.c.31735
- By:
- Publication type:
- Article
Characterizing genetic variants for clinical action.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 93, doi. 10.1002/ajmg.c.31386
- By:
- Publication type:
- Article