التفاصيل البيبلوغرافية
العنوان: |
A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features |
المؤلفون: |
D. Ardicli, S.B. Agullo, Francesco Muntoni, Steven Laurie, Irina Zaharieva, Mariacristina Scoto, L.M. Borrel, Anna Sarkozy, Rahul Phadke |
المصدر: |
Neuromuscular Disorders. 28:S36-S37 |
بيانات النشر: |
Elsevier BV, 2018. |
سنة النشر: |
2018 |
مصطلحات موضوعية: |
Arthrogryposis, Genetics, Neurology, MAGEL2 gene, Pediatrics, Perinatology and Child Health, medicine, Autistic features, Neurology (clinical), Global developmental delay, medicine.symptom, Biology, Novel mutation, Genetics (clinical) |
تدمد: |
0960-8966 |
الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_________::1d410ff15d648a672c0309af1931388bTest https://doi.org/10.1016/s0960-8966Test(18)30400-0 |
حقوق: |
CLOSED |
رقم الانضمام: |
edsair.doi...........1d410ff15d648a672c0309af1931388b |
قاعدة البيانات: |
OpenAIRE |