Found: 13
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Pain in Ehlers–Danlos Syndrome: A Non-Diagnostic Disabling Symptom?
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 7, p. 936, doi. 10.3390/healthcare11070936
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- Publication type:
- Article
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.640558
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- Publication type:
- Article
Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.
- Published in:
- 2002
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- Publication type:
- journal article
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing.
- Published in:
- Archives of Dermatological Research, 2019, v. 311, n. 4, p. 265, doi. 10.1007/s00403-019-01894-0
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- Publication type:
- Article
Is the Pain Just Physical? The Role of Psychological Distress, Quality of Life, and Autistic Traits in Ehlers–Danlos Syndrome, an Internet-Based Survey in Italy.
- Published in:
- Healthcare (2227-9032), 2021, v. 9, n. 11, p. 1472, doi. 10.3390/healthcare9111472
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- Publication type:
- Article
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
- Published in:
- Vascular & Endovascular Surgery, 2017, v. 51, n. 3, p. 141, doi. 10.1177/1538574417692114
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- Publication type:
- Article
Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 7, p. 871, doi. 10.1080/08035250500516649
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- Publication type:
- Article
A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
- Published in:
- Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E
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- Publication type:
- Article
A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.
- Published in:
- Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#
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- Publication type:
- Article
A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
- Published in:
- Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU22>3.0.CO;2-3
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- Publication type:
- Article
Intra-individual variability in the neuroprotective and promyelinating properties of conditioned culture medium obtained from human adipose mesenchymal stromal cells.
- Published in:
- Stem Cell Research & Therapy, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13287-023-03344-1
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- Publication type:
- Article
A 45-year-old Italian male with p.(Gly1815Ser) FBN1 mutation causing a mild variant of Marfan syndrome: A case study.
- Published in:
- Dermatologica Sinica, 2020, v. 38, n. 2, p. 98, doi. 10.4103/ds.ds_16_19
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- Publication type:
- Article