Found: 87
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
Danish children with ZZ‐homozygous alpha‐1 antitrypsin deficiency are more affected on liver parameters than children with heterozygosity.
- Published in:
- Acta Paediatrica, 2024, v. 113, n. 3, p. 580, doi. 10.1111/apa.17048
- By:
- Publication type:
- Article
Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention.
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04312-7
- By:
- Publication type:
- Article
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
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29759-7
- By:
- Publication type:
- Article
Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study.
- Published in:
- Osteoporosis International, 2022, v. 33, n. 12, p. 2595, doi. 10.1007/s00198-022-06536-2
- By:
- Publication type:
- Article
β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 540, doi. 10.1002/jmd2.12324
- By:
- Publication type:
- Article
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1234, doi. 10.1002/humu.24415
- 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
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 970, doi. 10.3390/genes13060970
- By:
- Publication type:
- Article
Six generations of CHMP2B‐mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 5, p. 529, doi. 10.1111/ane.13578
- By:
- Publication type:
- Article
Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 35, doi. 10.1159/000522230
- 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
Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.547638
- By:
- Publication type:
- Article
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1507, doi. 10.1002/humu.24066
- 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
Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 4, p. 226, doi. 10.1159/000509079
- 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
Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 2, p. 549, doi. 10.1002/ppul.24564
- By:
- Publication type:
- Article
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
P3‐274: MODIFIERS OF AGE‐AT‐ONSET IN FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 3 (FTD‐3).
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1042, doi. 10.1016/j.jalz.2019.06.3305
- By:
- Publication type:
- Article
Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 3, p. 237, doi. 10.3390/cells8030237
- By:
- Publication type:
- 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
Ocular albinism with infertility and late‐onset sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1587, doi. 10.1002/ajmg.a.38836
- By:
- Publication type:
- Article
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 12, p. 2034, doi. 10.1002/ccr3.1096
- By:
- Publication type:
- Article
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal 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
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.
- Published in:
- 2017
- By:
- Publication type:
- journal 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
Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?
- Published in:
- 2017
- By:
- Publication type:
- letter
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.
- Published in:
- Cerebellum, 2017, v. 16, n. 1, p. 62, doi. 10.1007/s12311-016-0765-1
- By:
- Publication type:
- Article
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 10, p. 972, doi. 10.1002/ccr3.658
- By:
- Publication type:
- Article
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Open source non-invasive prenatal testing platform and its performance in a public health laboratory.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 243, doi. 10.1007/s10545-015-9894-9
- By:
- Publication type:
- Article
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Hearing Impairment and Renal Failure Associated with RMND1 Mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 142, doi. 10.1002/ajmg.a.37399
- By:
- Publication type:
- Article