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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Published in:
2020
By:
- Delaney, Angela;
- Volochayev, Rita;
- Meader, Brooke;
- Lee, Janice;
- Almpani, Konstantinia;
- Noukelak, Germaine Y;
- Henkind, Jennifer;
- Chalmers, Laura;
- Law, Jennifer R;
- Williamson, Kathleen A;
- Jacobsen, Christina M;
- Buitrago, Tatiana Pineda;
- Perez, Orlando;
- Cho, Chie-Hee;
- Kaindl, Angela;
- Rauch, Anita;
- Steindl, Katharina;
- Garcia, Jose Elias;
- Russell, Bianca E;
- Prasad, Rameshwar
Publication type:
journal article
Chromatinopathies – from discovery to clinical diagnosis in the real world.
Published in:
2024
By:
- Russell, Bianca E.;
- Tan, Wen-Hann
Publication type:
Editorial
Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1050, doi. 10.1002/ajmg.a.63125
By:
- Russell, Bianca E.;
- Kianmahd, Rebecca R.;
- Munster, Chelsea;
- Yu, Anna;
- Ahad, Leena;
- Tan, Wen‐Hann
Publication type:
Article
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
By:
- Chenbhanich, Jirat;
- Hu, Yan;
- Hetts, Steven;
- Cooke, Daniel;
- Dowd, Christopher;
- Devine, Patrick;
- Russell, Bianca;
- Kang, Sung Hae L.;
- Chang, Vivian Y.;
- Abla, Adib A.;
- Cornett, Patricia;
- Yeh, Iwei;
- Lee, Hane;
- Martinez‐Agosto, Julian A.;
- Frieden, Ilona J.;
- Shieh, Joseph T.
Publication type:
Article
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2122, doi. 10.1002/ajmg.a.37131
By:
- Russell, Bianca;
- Johnston, Jennifer J.;
- Biesecker, Leslie G.;
- Kramer, Nancy;
- Pickart, Angela;
- Rhead, William;
- Tan, Wen‐Hann;
- Brownstein, Catherine A.;
- Kate Clarkson, L.;
- Dobson, Amy;
- Rosenberg, Avi Z.;
- Vergano, Samantha A. Schrier;
- Helm, Benjamin M.;
- Harrison, Rachel E.;
- Graham, John M.
Publication type:
Article
Complex genomic rearrangements of the Y chromosome in a premature infant.
Published in:
Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00689-x
By:
- Balow, Stephanie A.;
- Coyan, Alyxis G.;
- Smith, Nicki;
- Russell, Bianca E.;
- Monteil, Danielle;
- Hopkin, Robert J.;
- Smolarek, Teresa A.
Publication type:
Article
Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience.
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 1, p. 57, doi. 10.1111/epi.17807
By:
- Goel, Keshav;
- Phillips, H. Westley;
- Chen, Jia‐Shu;
- Ngo, Jacqueline;
- Edmonds, Benjamin;
- Ha, Phong X.;
- Wang, Andrew;
- Weil, Alexander;
- Russell, Bianca E.;
- Salamon, Noriko;
- Nariai, Hiroki;
- Fallah, Aria
Publication type:
Article
Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
By:
- Efthymiou, Stephanie;
- Dutra‐Clarke, Marina;
- Maroofian, Reza;
- Kaiyrzhanov, Rauan;
- Scala, Marcello;
- Reza Alvi, Javeria;
- Sultan, Tipu;
- Christoforou, Marilena;
- Tuyet Mai Nguyen, Thi;
- Mankad, Kshitij;
- Vona, Barbara;
- Rad, Aboulfazl;
- Striano, Pasquale;
- Salpietro, Vincenzo;
- Guillen Sacoto, Maria J.;
- Zaki, Maha S.;
- Gleeson, Joseph G.;
- Campeau, Philippe M.;
- Russell, Bianca E.;
- Houlden, Henry
Publication type:
Article
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
Published in:
Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1244176
By:
- Ayoub, Maya C.;
- Anderson, Jeffrey T.;
- Russell, Bianca E.;
- Wilson, Rujuta B.
Publication type:
Article
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.969
By:
- Russell, Bianca E.;
- Rigueur, Diana;
- Weaver, Kathryn N.;
- Sund, Kristen;
- Basil, Janet S.;
- Hufnagel, Robert B.;
- Prows, Cynthia A.;
- Oestreich, Alan;
- Al‐Gazali, Lihadh;
- Hopkin, Robert J;
- Saal, Howard M.;
- Lyons, Karen;
- Dauber, Andrew
Publication type:
Article

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