Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia
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Published in Reproduction fertility and development (01.05.2020)
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
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Published in Genetics in medicine (19.09.2024)
Published in Genetics in medicine (19.09.2024)
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
Rosenhahn, Erik, O’Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowzan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E.I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M.H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E.X., Maroofian, Reza, Platzer, Konrad
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Journal Article
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
Calame, Daniel G, Wong, Jovi Huixin, Panda, Puravi, Nguyen, Dat Tuan, Leong, Nancy C P, Sangermano, Riccardo, Patankar, Sohil G, Abdel-Hamid, Mohamed, AlAbdi, Lama, Safwat, Sylvia, Flannery, Kyle P, Dardas, Zain, Fatih, Jawid M, Murali, Chaya, Kannan, Varun, Lotze, Timothy E, Herman, Isabella, Ammouri, Farah, Rezich, Brianna, Efthymiou, Stephanie, Alavi, Shahryar, Murphy, David, Firoozfar, Zahra, Nasab, Mahya Ebrahimi, Bahreini, Amir, Ghasemi, Majid, Haridy, Nourelhoda A, Goldouzi, Hamid Reza, Eghbal, Fatemeh, Karimiani, Ehsan Ghayoor, Srinivasan, Varunvenkat M, Gowda, Vykuntaraju K, Du, Haowei, Jhangiani, Shalini N, Coban-Akdemir, Zeynep, Marafi, Dana, Rodan, Lance, Isikay, Sedat, Rosenfeld, Jill A, Ramanathan, Subhadra, Staton, Michael, Kerby C Oberg, Clark, Robin D, Wenman, Catharina, Loughlin, Sam, Saad, Ramy, Ashraf, Tazeen, Male, Alison, Tadros, Shereen, Boostani, Reza, Abdel-Salam, Ghada M H, Zaki, Maha, Abdalla, Ebtesam, Manzini, M Chiara, Pehlivan, Davut, Posey, Jennifer E, Gibbs, Richard A, Houlden, Henry, Alkuraya, Fowzan S, Bujakowska, Kinga, Maroofian, Reza, Lupski, James R, Nguyen, Long Nam
Published in medRxiv : the preprint server for health sciences (13.02.2024)
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Published in medRxiv : the preprint server for health sciences (13.02.2024)
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