New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2
Schnur, Rhonda E., Dvořáček, Lukáš, Kalsner, Louisa, Shapiro, Faye L., Grebeňová, Dana, Yanni, Diana, Wasserman, Barry N., Agrawal, Pankaj, Parker, Margaret, Yu, Timothy, Douglas, Jessica, Young, Vanessa, D'Gama, Alissa, Hills, Sonia, Wojcik, Monika, Brownstein, Catherine, Genetti, Casie, Schmith‐Abe, Klaus, Dyer, Lisa M., Antonarakis, Stylianos E., Kuželová, Kateřina
Published in Clinical genetics (01.10.2024)
Published in Clinical genetics (01.10.2024)
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SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
Malbos, Marlène, Vera, Gabriella, Sheth, Harsh, Schnur, Rhonda E., Juven, Aurélien, Brehin, Anne‐Claire, Sheth, Jayesh, Gandhi, Ajit, Shapiro, Faye L., Bruel, Ange‐Line, Marguet, Florent, Begtrup, Amber, Monaghan, Kristin G., Safraou, Hana, Brasseur‐Daudruy, Marie, Mau‐Them, Frédéric Tran, Duffourd, Yannis, Faivre, Laurence, Thauvin‐Robinet, Christel, Benke, Paul J., Philippe, Christophe
Published in Clinical genetics (01.12.2024)
Published in Clinical genetics (01.12.2024)
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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
Bai, Renkui, Cui, Hong, Devaney, Joseph M., Allis, Katrina M., Balog, Amanda M., Liu, Xinyue, Schnur, Rhonda E., Shapiro, Faye L., Brautbar, Ariel, Estrada-Veras, Juvianee I., Hochstetler, Laurel, McConkie-Rosell, Allyn, McDonald, Marie T., Solomon, Benjamin D., Hofherr, Sean, Richard, Gabriele, Suchy, Sharon F.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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