Found: 16
Select item for more details and to access through your institution.
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0546-4
- By:
- Publication type:
- Article
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
- By:
- Publication type:
- Article
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32056
- By:
- Publication type:
- Article
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2152, doi. 10.1002/ajmg.a.61295
- By:
- Publication type:
- Article
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00168-3
- By:
- Publication type:
- Article
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
- Published in:
- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1195704
- By:
- Publication type:
- Article
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
- By:
- Publication type:
- Article
A deep intronic SMARCB1 variant associated with schwannomatosis.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 376, doi. 10.1111/cge.13637
- By:
- Publication type:
- Article
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 403, doi. 10.1002/humu.23938
- By:
- Publication type:
- Article
Congenital Anomalies in Offspring of Maternal Glucokinase-Maturity-Onset Diabetes of the Young: A Case Report.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment.
- Published in:
- Diabetes Care, 2012, v. 35, n. 9, p. 1832, doi. 10.2337/dc12-0151
- By:
- Publication type:
- Article