Found: 30
Select item for more details and to access through your institution.
Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).
- Published in:
- 2024
- By:
- Publication type:
- Case Study
DNA methylation signature classification of rare disorders using publicly available methylation data.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 688, doi. 10.1111/cge.14304
- By:
- Publication type:
- Article
Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2251, doi. 10.1002/ajmg.a.62753
- By:
- Publication type:
- Article
Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.707837
- By:
- Publication type:
- Article
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
- Published in:
- Human Mutation, 2021, v. 42, n. 9, p. 1101, doi. 10.1002/humu.24247
- By:
- Publication type:
- Article
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 3, p. 1, doi. 10.3390/ijns7030050
- By:
- Publication type:
- Article
Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.707838
- By:
- Publication type:
- Article
Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans.
- Published in:
- Cleft Palate Craniofacial Journal, 2021, v. 58, n. 6, p. 687, doi. 10.1177/1055665620959983
- By:
- Publication type:
- Article
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2020, v. 11, n. 8, p. 936, doi. 10.3390/genes11080936
- By:
- Publication type:
- Article
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66588-4
- By:
- Publication type:
- Article
upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 902, doi. 10.1111/cge.13727
- By:
- Publication type:
- Article
Increased risk of sudden death in untreated primary carnitine deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 290, doi. 10.1002/jimd.12158
- By:
- Publication type:
- Article
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 403, doi. 10.1111/cge.13473
- By:
- Publication type:
- Article
Genotype and phenotype classification of 29 patients affected by Krabbe disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 35, doi. 10.1002/jmd2.12007
- By:
- Publication type:
- Article
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 3, p. 735, doi. 10.1007/s00415-019-09196-1
- By:
- Publication type:
- Article
Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.
- Published in:
- Acta Paediatrica, 2017, v. 106, n. 10, p. 1651, doi. 10.1111/apa.13969
- By:
- Publication type:
- Article
Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 10, p. 2041, doi. 10.1002/jbmr.3193
- By:
- Publication type:
- Article
Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 4, p. e306, doi. 10.1111/aos.12558
- By:
- Publication type:
- Article
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 518, doi. 10.1002/acn3.193
- By:
- Publication type:
- Article
Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122662
- By:
- Publication type:
- Article
Deletion of exon 16 of the dystrophin gene is not associated with disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9477
- By:
- Publication type:
- Article
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 12, p. 3402, doi. 10.1093/brain/awl149
- By:
- Publication type:
- Article
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
- Published in:
- Human Genetics, 2004, v. 115, n. 6, p. 459, doi. 10.1007/s00439-004-1174-y
- By:
- Publication type:
- Article
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 738, doi. 10.1038/sj.ejhg.5201218
- By:
- Publication type:
- Article
Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 6, p. 722, doi. 10.1002/mus.10501
- By:
- Publication type:
- Article
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 4, p. 449, doi. 10.1002/mus.10347
- By:
- Publication type:
- Article
Targeted deletions created in yeast vectors by recombinational excision.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 8, p. e1, doi. 10.1093/nar/27.8.e1
- By:
- Publication type:
- Article