Latest Research in Connective tissue disorders research

Top Research Topics in Connective tissue disorders research

• Connective tissue disorders research — 2 papers
• Mitochondrial Function and Pathology — 1 papers
• Congenital Ear and Nasal Anomalies — 1 papers
• Traumatic Brain Injury Research — 1 papers
• Genomic variations and chromosomal abnormalities — 1 papers
• Williams Syndrome Research — 1 papers
• Language Development and Disorders — 1 papers
• Congenital gastrointestinal and neural anomalies — 1 papers
• Trace Elements in Health — 1 papers
• Muscle Physiology and Disorders — 1 papers

Highest-Cited Papers

1. Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies
2. Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G ( p.Asp1758Gly ), in CHARGE Syndrome
3. Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes
4. Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.
5. Ring chromosome 7 syndrome with severe hypertriglyceridemia and mild echocardiographic abnormalities: a case report
6. A case of dual diagnosis of Williams syndrome and Lynch syndrome: clinical and genetic analysis
7. Disruptions in speech, language and social communication in lysosomal storage diseases
8. Expanding the Genotypic and Phenotypic Spectrum of Vissers‐Bodmer Syndrome
9. A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel
10. Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience
11. Exon-skipping therapies for DMD in Kazakhstan: Progress and challenges
12. Real-world Roche Elecsys® and Fujirebio Lumipulse® inter-platform comparability and clinical validation of plasma neurofilament light chain in multiple sclerosis
13. Succinyl-CoA:3-ketoacid CoA Transferase (SCOT) Deficiency: Case Series of Eight Patients with Novel OXCT1 Mutations from a Consanguineous Population in India
14. Noonan Syndrome Type 5 Diagnosed by Next-Generation Sequencing: A Report of a Rare Pediatric Case
15. A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development