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Response to Comment on Rickels et al. Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority Study. Diabetes Care 2016;39:264-270.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Glucagon Nasal Powder: A Promising Alternative to Intramuscular Glucagon in Youth With Type 1 Diabetes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority Study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1792
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- Publication type:
- Article
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3184, doi. 10.1002/ajmg.a.62967
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- Publication type:
- Article
Homozygous variants in pyrroline-5-carboxylate reductase 2 ( PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 460, doi. 10.1002/ajmg.a.38049
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- Publication type:
- Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
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- Publication type:
- Article
Social Skills Training for Adolescents with Asperger Syndrome and High-Functioning Autism.
- Published in:
- Journal of Autism & Developmental Disorders, 2007, v. 37, n. 10, p. 1960, doi. 10.1007/s10803-006-0343-3
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- Publication type:
- Article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
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- Publication type:
- Article
Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
- Published in:
- JAMA Pediatrics, 2017, v. 171, n. 12, p. 1, doi. 10.1001/jamapediatrics.2017.3438
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- Publication type:
- Article
Gene-targeting pharmaceuticals for single-gene disorders.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. R1, p. R18, doi. 10.1093/hmg/ddv476
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- Publication type:
- Article
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 13, p. 3001, doi. 10.1093/hmg/dds130
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- Publication type:
- Article
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
- Published in:
- Nature, 2015, v. 518, n. 7539, p. 409, doi. 10.1038/nature13975
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- Publication type:
- Article
Validation of the diagnosis of autism in general practitioner records.
- Published in:
- BMC Public Health, 2004, v. 4, p. 5, doi. 10.1186/1471-2458-4-5
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- Publication type:
- Article
Truncation of <i>Ube3a-ATS</i> Unsilences Paternal <i>Ube3a</i> and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004039
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- Publication type:
- Article
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1097, doi. 10.1002/humu.24302
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- Publication type:
- Article
Inside Back Cover, Volume 41, Issue 8.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. iii, doi. 10.1002/humu.24086
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- Publication type:
- Article
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1365, doi. 10.1002/humu.24033
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- Publication type:
- Article
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
- Published in:
- Human Mutation, 2020, v. 41, n. 3, p. 632, doi. 10.1002/humu.23950
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- Publication type:
- Article
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00410-2
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- Publication type:
- Article
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0658-2
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- Publication type:
- Article
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
- Published in:
- Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
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- Publication type:
- Article