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Journal description
All volumes of the corresponding journal
All issues of the corresponding volume
All articles of the corresponding issues
6 results found
| no | title | author | magazine | year | volume | issue | page(s) | type |
| 1 | A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype |
Cao, Yang |
2017 |
60 | 8 |
p. 416-420 5 p. |
article |
|
| 2 | Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations |
Corbett, Mark A. |
2017 |
60 | 8 |
p. 437-443 7 p. |
article |
|
| 3 | Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient |
Won, Joon Yeon |
2017 |
60 | 8 |
p. 411-415 5 p. |
article |
|
| 4 | Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms |
Afzal, Muhammad |
2017 |
60 | 8 |
p. 421-425 5 p. |
article |
|
| 5 | Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene |
Ma, Wenbin |
2017 |
60 | 8 |
p. 433-436 4 p. |
article |
|
| 6 | Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS |
Regateiro, Frederico S. |
2017 |
60 | 8 |
p. 426-432 7 p. |
article |
6 results found