التفاصيل البيبلوغرافية
العنوان: |
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis |
المؤلفون: |
Boschann, Felix, Cogulu, Ozgur, Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Fischer-Zirnsak, Björn, Badura, Simon, Durmaz, Burak, Ozkinay, Ferda, Hägerling, René, Posey, Jennifer E., Stricker, Sigmar, Gillessen-Kaesbach, Gabriele, Spielmann, Malte, Horn, Denise, Brockmann, Knut, Lupski, James R., Kornak, Uwe, Schmidt, Julia |
المصدر: |
Genetics in Medicine ; volume 24, issue 10, page 2187-2193 ; ISSN 1098-3600 |
بيانات النشر: |
Elsevier BV |
سنة النشر: |
2022 |
المجموعة: |
ScienceDirect (Elsevier - Open Access Articles via Crossref) |
نوع الوثيقة: |
article in journal/newspaper |
اللغة: |
English |
DOI: |
10.1016/j.gim.2022.07.012 |
الاتاحة: |
http://dx.doi.org/10.1016/j.gim.2022.07.012 https://api.elsevier.com/content/article/PII:S1098360022008498?httpAccept=text/xml https://api.elsevier.com/content/article/PII:S1098360022008498?httpAccept=text/plain |
Rights: |
https://www.elsevier.com/tdm/userlicense/1.0/ ; http://creativecommons.org/licenses/by-nc-nd/4.0/ |
رقم الانضمام: |
edsbas.AC686247 |
قاعدة البيانات: |
BASE |