Results 141 to 148 of about 1,246,443 (148)

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

Genes, 2019
Lennart Opitz, Ingrid Hausser, Marianne Rohrbach   +2 more
exaly  

Kyphoscoliotic Type of Ehlers-Danlos Syndrome (EDS VIA) in Six Egyptian Patients Presenting With a Homogeneous Clinical Phenotype

European Journal of Pediatrics, 2015
Ebtesam Abdalla, Marianne Rohrbach, Cecilia Giunta   +2 more
exaly  

Between Myopathy and Mortality: Challenges in the Diagnosis of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Journal of Neuromuscular Diseases
Walter A. Wohlgemuth, Katharina Vill, Iris Hannibal   +2 more
exaly  

Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1997

American Journal of Medical Genetics, Part A, 1998
Anne De Paepe, Beat Steinmann
exaly  

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome

American Journal of Medical Genetics, Part A
Maria Iascone, Marco Castori, Laura Pezzoli   +2 more
exaly  

USE OF CELIPROLOL FOR TREATING KYPHOSCOLIOTIC EHLERS-DANLOS SYNDROME

2019
openaire   +2 more sources

The Ehlers-Danlos Syndrome

2002
Andrea Superti-Furga, Beat Steinmann, Peter M Royce   +2 more
exaly  

EDS VI: Kyphoscoliotic Type, Ocular-Scoliotic Type, Nevo Syndrome, Brittle Cornea Syndrome (Variant of Ehlers-Danlos Type VI)

2018
openaire   +1 more source