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Dihydroceramide Desaturase Functions as an Inducer and Rectifier of Apoptosis: Effect of Retinol Derivatives, Antioxidants and Phenolic Compounds.
- Published in:
- Cell Biochemistry & Biophysics, 2021, v. 79, n. 3, p. 461, doi. 10.1007/s12013-021-00990-1
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- Publication type:
- Article
Explorations to improve the completeness of exome sequencing.
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- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0216-3
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- Publication type:
- Article
Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
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- Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 993, doi. 10.1002/jgc4.1707
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- Publication type:
- Article
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
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- Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 326, doi. 10.1002/jgc4.1493
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- Publication type:
- Article
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
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- Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 59, doi. 10.1002/jgc4.1451
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- Publication type:
- Article
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
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- Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 439, doi. 10.1002/jgc4.1329
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- Publication type:
- Article
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 213, doi. 10.1002/jgc4.1119
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- Publication type:
- Article
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 466, doi. 10.1002/jgc4.1094
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- Publication type:
- Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
- Published in:
- 2019
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- Publication type:
- journal article
Chemically engineering ligand selectivity at the free fatty acid receptor 2 based on pharmacological variation between species orthologs.
- Published in:
- FASEB Journal, 2012, v. 26, n. 12, p. 4951, doi. 10.1096/fj.12-213314
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- Publication type:
- Article
Replicate exome-sequencing in a multiplegeneration family: improved interpretation of next-generation sequencing data.
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- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2107-y
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- Publication type:
- Article
Capacity and blow-up for the 3 + 1 dimensional wave operator.
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- Forum Mathematicum, 2008, v. 20, n. 2, p. 341, doi. 10.1515/FORUM.2008.017
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- Publication type:
- Article
E‐cadherin and p120ctn protein expression are lost in hidradenitis suppurativa lesions.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 7, p. 867, doi. 10.1111/exd.13973
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- Publication type:
- Article
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
- Published in:
- Nature Communications, 2014, v. 5, n. 2, p. 3251, doi. 10.1038/ncomms4251
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- Publication type:
- Article
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
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- Cell & Bioscience, 2017, v. 7, p. 1, doi. 10.1186/s13578-017-0149-3
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- Publication type:
- Article
Singular Operators with Antisymmetric Kernels, Related Capacities, and Wolff Potentials.
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- IMRN: International Mathematics Research Notices, 2012, v. 2012, n. 24, p. 5554, doi. 10.1093/imrn/rnr258
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- Publication type:
- Article
A Novel Selective Sphingosine Kinase 2 Inhibitor, HWG-35D, Ameliorates the Severity of Imiquimod-Induced Psoriasis Model by Blocking Th17 Differentiation of Naïve CD4 T Lymphocytes.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8371, doi. 10.3390/ijms21218371
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- Publication type:
- Article
Unexpected N-Demethylation of Oxymorphone and Oxycodone N-Oxides Mediated by the Burgess Reagent: Direct Synthesis of Naltrexone, Naloxone, and Other Antagonists from Oxymorphone.
- Published in:
- Advanced Synthesis & Catalysis, 2012, v. 354, n. 14/15, p. 2706, doi. 10.1002/adsc.201200676
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- Publication type:
- Article
Wolff potentials and the 3-d wave operator.
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- Forum Mathematicum, 2011, v. 23, n. 5, p. 961, doi. 10.1515/FORM.2011.034
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- Publication type:
- Article
Capacity and potentials on curves.
- Published in:
- Forum Mathematicum, 2010, v. 22, n. 5, p. 985, doi. 10.1515/FORUM.2010.053
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- Publication type:
- Article
Identification of a multifunctional docking site on the catalytic unit of phosphodiesterase-4 (PDE4) that is utilised by multiple interaction partners.
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- Biochemical Journal, 2017, v. 474, n. 4, p. 597, doi. 10.1042/BCJ20160849
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- Publication type:
- Article
Effects of Aerobic, Strength or Combined Exercise on Perceived Appetite and Appetite-Related Hormones in Inactive Middle-Aged Men.
- Published in:
- International Journal of Sport Nutrition & Exercise Metabolism, 2017, v. 27, n. 5, p. 389, doi. 10.1123/ijsnem.2017-0144
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- Publication type:
- Article
Health Care Utilization Patterns and Costs for Patients With Hidradenitis Suppurativa.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 9, p. 937, doi. 10.1001/jamadermatol.2014.691
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- Publication type:
- Article
Persistent Allergic Contact Dermatitis to Plastic Toilet Seats.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 5, p. 587, doi. 10.1111/j.1525-1470.2010.01211.x
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- Publication type:
- Article
Diffuse Clusters of Vesicles on the Face and Extremities of a 10-Month-Old Girl.
- Published in:
- Pediatric Dermatology, 2009, v. 26, n. 6, p. 747, doi. 10.1111/j.1525-1470.2009.01025.x
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- Publication type:
- Article
Putting the lid on phosphodiesterase 4.
- Published in:
- 2010
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- Publication type:
- Opinion
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
- Published in:
- 2024
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- Publication type:
- Case Study
Limited Effects of Endurance or Interval Training on Visceral Adipose Tissue and Systemic Inflammation in Sedentary Middle-Aged Men.
- Published in:
- Journal of Obesity, 2016, p. 1, doi. 10.1155/2016/2479597
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- Publication type:
- Article
An Obstacle Control Problem with a Source Term.
- Published in:
- Applied Mathematics & Optimization, 2003, v. 47, n. 1, p. 79
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- Publication type:
- Article
Participation in a national diagnostic research study: assessing the patient experience.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02695-5
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- Publication type:
- Article
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
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- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008143
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- Publication type:
- Article
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
- Published in:
- 2016
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- Publication type:
- journal article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0235-8
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- Publication type:
- Article
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
FOXR1 regulates stress response pathways and is necessary for proper brain development.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 11, p. 1, doi. 10.1371/journal.pgen.1009854
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- Publication type:
- Article
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
- Published in:
- 2011
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- Publication type:
- journal article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
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- Publication type:
- Article
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1037, doi. 10.1002/jimd.12249
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- Publication type:
- Article
Besov capacity redux.
- Published in:
- Journal of Mathematical Sciences, 2009, v. 162, n. 3, p. 307, doi. 10.1007/s10958-009-9639-0
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- Publication type:
- Article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
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- Publication type:
- Article
Eczema Herpeticum: A Dermatologic Emergency.
- Published in:
- Dermatology Nursing, 2002, v. 14, n. 5, p. 307
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- Publication type:
- Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- 2020
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- Publication type:
- Correction Notice
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
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- Publication type:
- Article
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
- Published in:
- Human Mutation, 2021, v. 42, n. 10, p. 1239, doi. 10.1002/humu.24257
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- Publication type:
- Article
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1115, doi. 10.1002/humu.23760
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- Publication type:
- Article
Cover Image, Volume 38, Issue 10.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
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- Publication type:
- Article
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287
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- Publication type:
- Article
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics.
- Published in:
- Human Mutation, 2013, v. 34, n. 6, p. 827, doi. 10.1002/humu.22315
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- Publication type:
- Article
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 614, doi. 10.1002/humu.22032
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- Publication type:
- Article
Analysis of DNA sequence variants detected by high-throughput sequencing.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 599, doi. 10.1002/humu.22035
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- Publication type:
- Article