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HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 06/2019, Volume 28, Issue 11, pp. 1853 - 1864
The Ehlers-Danlos syndromes (EDSs) are a clinically and molecularly diverse group of heritable connective tissue disorders caused by defects in a wide range of... 
PLATFORM | LUNG | SEQUENCE VARIANTS | CARBOXYPEPTIDASE-LIKE PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2014, Volume 802, pp. 129 - 143
Journal Article
Disability and Rehabilitation, ISSN 0963-8288, 11/2010, Volume 32, Issue 16, pp. 1339 - 1345
Purpose. To investigate the musculoskeletal complaints, physical activity (PA) and health-related quality of life (HRQoL) in patients with the Ehlers-Danlos... 
quality of life | Ehlers-Danlos syndrome | musculoskeletal | Musculoskeletal | Quality of life
Journal Article
Genome Biology, ISSN 1474-7596, 2007, Volume 8, Issue 2, pp. R19 - R19
Although quantitative PCR (qPCR) is becoming the method of choice for expression profiling of selected genes, accurate and straightforward processing of the... 
TARGET | MUTATIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENES | GENETICS & HEREDITY | Gene Expression Profiling - methods | Models, Genetic | Software | Algorithms | Polymerase Chain Reaction - methods | Index Medicus | Method
Journal Article
Human Mutation, ISSN 1059-7794, 06/2000, Volume 15, Issue 6, pp. 541 - 555
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene. Mutation detection is complex... 
NF1 | splicing errors | Neurofibromatosis type 1 | mutational spectrum | Mutational spectrum | Splicing errors
Journal Article
American Journal of Medical Genetics Part c : Seminars in Medical Genetics, ISSN 1552-4868, 2017, Volume 175, Issue 1, pp. 8 - 26
Journal Article
Conference Proceeding
Lancet, The, ISSN 0140-6736, 2010, Volume 376, Issue 9751, pp. 1476 - 1484
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2013, Volume 24, Issue 1, pp. 89 - 89
Journal Article
Journal Article
American Journal of Cardiology, The, ISSN 0002-9149, 2014, Volume 114, Issue 6, pp. 914 - 920
Journal Article
Frontiers in genetics, ISSN 1664-8021, 2013, Volume 4, p. 203
ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- or bidirectional transfer of a large variety of substrates.... 
Journal Article