Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Report
|
![]() |
10p15.3p13 duplication inherited from paternal balance translocation (46,XY,t(5;10)(q35.1;p13)) identified on non-invasive prenatal testingMei, Jin ; Wang, Hao ; Zhan, LiyongThe journal of obstetrics and gynaecology research, 2017, Vol.43 (6), p.1076-1079Texto completo disponível |
2 |
Material Type: Report
|
![]() |
10TH International Conference on Retinal Proteins. Program and AbstractsEbrey, Thomas2003Texto completo disponível |
3 |
Material Type: Report
|
![]() |
|
4 |
Material Type: Report
|
![]() |
1154insTC is not a rare CFTR mutationAlper, Ozgül M ; Wong, Lee-Jun C ; Hostetter, Galen ; Cook, James ; Tenenholz, Beverly ; Hsu, Evelyn ; Woo, Marlyn SAmerican journal of medical genetics. Part A, 2003, Vol.120A (2), p.294-295Texto completo disponível |
5 |
Material Type: Report
|
![]() |
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-Additional case and data's reviewJezela-Stanek, Aleksandra ; Kucharczyk, Marzena ; Pelc, Magdalena ; Gutkowska, Anna ; Krajewska-Walasek, MałgorzataAmerican Journal of Medical Genetics Part A, 2013, Vol.161A (1), p.172-178Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
6 |
Material Type: Report
|
![]() |
11p15.4 Microdeletion Associates with HemihypertrophyPuvabanditsin, Surasak ; Sadiq, Mehrin ; Jacob, Marianne ; Jalil, Maaz ; Cabrera, Kenya ; Choudry, Omer ; Mehta, RajeevCase reports in genetics, 2018, Vol.2018, p.2746347-2746347Texto completo disponível |
7 |
Material Type: Report
|
![]() |
11Q duplication in a patient with Pitt-Rogers-Danks phenotypede Die-Smulders, C E ; Engelen, J JAmerican journal of medical genetics, 1996, Vol.66 (1), p.116-117Texto completo disponível |
8 |
Material Type: Report
|
![]() |
1,25-Dihydroxyvitamin D3 Suppresses TLR8 Expression and TLR8-Mediated Inflammatory Responses in Monocytes In Vitro and Experimental Autoimmune Encephalomyelitis In VivoLi, Bo ; Baylink, David J ; Deb, Chandra ; Zannetti, Claudia ; Rajaallah, Fatima ; Xing, Weirong ; Walter, Michael H ; Lau, K W ; Qin, Xuezhong2013Texto completo disponível |
9 |
Material Type: Report
|
![]() |
1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a ChildCobb, William ; Anderson, Arne ; Turner, Clesson ; Hoffman, Ruth D ; Schonberg, Steven ; Levin, Sondra W2010Texto completo disponível |
10 |
Material Type: Report
|
![]() |
1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a childCobb, William ; Anderson, Arne ; Turner, Clesson ; Hoffman, Ruth D ; Schonberg, Steven ; Levin, Sondra WEuropean journal of medical genetics, 2010, Vol.53 (6), p.415-418Texto completo disponível |