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Published in Molecular genetics & genomic medicine (01.11.2017)
Published in Molecular genetics & genomic medicine (01.11.2017)
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Current status of beta‐thalassemia and its treatment strategies
Ali, Shaukat, Mumtaz, Shumaila, Shakir, Hafiz Abdullah, Khan, Muhammad, Tahir, Hafiz Muhammad, Mumtaz, Samaira, Mughal, Tafail Akbar, Hassan, Ali, Kazmi, Syed Akif Raza, Sadia, Irfan, Muhammad, Khan, Muhammad Adeeb
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Published in Molecular genetics & genomic medicine (01.12.2021)
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Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
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Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.
Published in Molecular genetics & genomic medicine (01.11.2020)
Published in Molecular genetics & genomic medicine (01.11.2020)
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The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy
DiVincenzo, Christina, Elzinga, Christopher D., Medeiros, Adam C., Karbassi, Izabela, Jones, Jeremiah R., Evans, Matthew C., Braastad, Corey D., Bishop, Crystal M., Jaremko, Malgorzata, Wang, Zhenyuan, Liaquat, Khalida, Hoffman, Carol A., York, Michelle D., Batish, Sat D., Lupski, James R., Higgins, Joseph J.
Published in Molecular genetics & genomic medicine (01.11.2014)
Published in Molecular genetics & genomic medicine (01.11.2014)
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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
Germain, Dominique P., Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C., Kempf, Judy, Laney, Dawn A., Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P., Waldek, Stephen, Wanner, Christoph, Jovanovic, Ana
Published in Molecular genetics & genomic medicine (01.07.2018)
Published in Molecular genetics & genomic medicine (01.07.2018)
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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
Leija‐Salazar, Melissa, Sedlazeck, Fritz J., Toffoli, Marco, Mullin, Stephen, Mokretar, Katya, Athanasopoulou, Maria, Donald, Aimee, Sharma, Reena, Hughes, Derralynn, Schapira, Anthony H.V., Proukakis, Christos
Published in Molecular genetics & genomic medicine (01.03.2019)
Published in Molecular genetics & genomic medicine (01.03.2019)
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The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies
Fisher, Elena R., Pratt, Rebekah, Esch, Riley, Kocher, Megan, Wilson, Katie, Lee, Whiwon, Zierhut, Heather A.
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
Duis, Jessica, Nespeca, Mark, Summers, Jane, Bird, Lynne, Bindels‐de Heus, Karen G.C.B., Valstar, M. J., Wit, Marie‐Claire Y., Navis, C., ten Hooven‐Radstaake, Maartje, Iperen‐Kolk, Bianca M., Ernst, Susan, Dendrinos, Melina, Katz, Terry, Diaz‐Medina, Gloria, Katyayan, Akshat, Nangia, Srishti, Thibert, Ronald, Glaze, Daniel, Keary, Christopher, Pelc, Karine, Simon, Nicole, Sadhwani, Anjali, Heussler, Helen, Wheeler, Anne, Woeber, Caroline, DeRamus, Margaret, Thomas, Amy, Kertcher, Emily, DeValk, Lauren, Kalemeris, Kristen, Arps, Kara, Baym, Carol, Harris, Nicole, Gorham, John P., Bohnsack, Brenda L., Chambers, Reid C., Harris, Sarah, Chambers, Henry G., Okoniewski, Katherine, Jalazo, Elizabeth R., Berent, Allyson, Bacino, Carlos A., Williams, Charles, Anderson, Anne
Published in Molecular genetics & genomic medicine (01.03.2022)
Published in Molecular genetics & genomic medicine (01.03.2022)
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Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Cascio, Lauren, Chen, Chin‐Fu, Pauly, Rini, Srikanth, Sujata, Jones, Kelly, Skinner, Cindy D., Stevenson, Roger E., Schwartz, Charles E., Boccuto, Luigi
Published in Molecular genetics & genomic medicine (01.01.2020)
Published in Molecular genetics & genomic medicine (01.01.2020)
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Mirza, Myriam, Vainshtein, Anna, DiRonza, Alberto, Chandrachud, Uma, Haslett, Luke J., Palmieri, Michela, Storch, Stephan, Groh, Janos, Dobzinski, Niv, Napolitano, Gennaro, Schmidtke, Carolin, Kerkovich, Danielle M.
Published in Molecular genetics & genomic medicine (01.12.2019)
Published in Molecular genetics & genomic medicine (01.12.2019)
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Genetic variability of human angiotensin‐converting enzyme 2 (hACE2) among various ethnic populations
Li, Quan, Cao, Zanxia, Rahman, Proton
Published in Molecular Genetics & Genomic Medicine (01.08.2020)
Published in Molecular Genetics & Genomic Medicine (01.08.2020)
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A multidisciplinary approach to the clinical management of Prader–Willi syndrome
Duis, Jessica, van Wattum, Pieter J., Scheimann, Ann, Salehi, Parisa, Brokamp, Elly, Fairbrother, Laura, Childers, Anna, Shelton, Althea Robinson, Bingham, Nathan C., Shoemaker, Ashley H., Miller, Jennifer L.
Published in Molecular genetics & genomic medicine (01.03.2019)
Published in Molecular genetics & genomic medicine (01.03.2019)
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Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey
Published in Molecular genetics & genomic medicine (01.05.2021)
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Zhuang, Shu‐tong, Cai, Yan‐juan, Liu, Hong‐peng, Qin, Ying, Wen, Jian‐feng
Published in Molecular genetics & genomic medicine (01.04.2020)
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Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Metformin treatment in young children with fragile X syndrome
Biag, Hazel Maridith B., Potter, Laura A., Wilkins, Victoria, Afzal, Sumra, Rosvall, Alexis, Salcedo‐Arellano, Maria Jimena, Rajaratnam, Akash, Manzano‐Nunez, Ramiro, Schneider, Andrea, Tassone, Flora, Rivera, Susan M., Hagerman, Randi J.
Published in Molecular genetics & genomic medicine (01.11.2019)
Published in Molecular genetics & genomic medicine (01.11.2019)
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Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing
Zhang, Tao, Bian, Qianqian, Chen, Yanchun, Wang, Xiaolin, Yu, Shaowei, Liu, Shunhua, Ji, Ping, Li, Ling, Shrestha, Mandakini, Dong, Shujun, Guo, Rong, Zhang, Hong
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Published in Molecular genetics & genomic medicine (01.08.2021)
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