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Year | Number of Results |
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2005 | 1 |
2017 | 1 |
2018 | 2 |
2019 | 1 |
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Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.
Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J.
Böhm J, et al.
J Med Genet. 2019 Sep;56(9):617-621. doi: 10.1136/jmedgenet-2018-105390. Epub 2018 Oct 16.
J Med Genet. 2019.
PMID: 30327447
Review.
Item in Clipboard
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE, Kurdi W, Almusafri F, Alnemer M, Alkaff A, Babay Z, Alhashem A, Tulbah M, Alsahan N, Khan R, Sallout B, Al Mardawi E, Seidahmed MZ, Meriki N, Alsaber Y, Qari A, Khalifa O, Eyaid W, Rahbeeni Z, Kurdi A, Hashem M, Alshidi T, Al-Obeid E, Abdulwahab F, Ibrahim N, Ewida N, El-Akouri K, Al Mulla M, Ben-Omran T, Pergande M, Cirak S, Al Tala S, Shaheen R, Faqeih E, Alkuraya FS.
Shamseldin HE, et al.
Genet Med. 2018 Apr;20(4):420-427. doi: 10.1038/gim.2017.111. Epub 2017 Jul 20.
Genet Med. 2018.
PMID: 28749478
Free article.
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