תוצאות חיפוש - Rajabi, Farrah
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Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female מאת Rajabi, Farrah, Rodan, Lance H., Jonas, Maureen M., Soul, Janet S., Ullrich, Nicole J., Wessel, Ann, Waisbren, Susan E., Tan, Wen-Hann, Berry, Gerard T.
יצא לאור 2017Text -
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OR33-07 ARNT2: A Potential Novel Candidate Gene for Monogenic Obesity in Humans מאת Thaker, Vidhu V, Seaby, Eleanor G, Genetti, Casie, Sutherland, Jacob, Ianello, Grazia, Rajabi, Farrah, Schreiber, John M, Doege, Claudia A, Turer, Emre E, Hirschhorn, Joel N, Agrawal, Pankaj B
יצא לאור 2020Text -
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 מאת Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou
יצא לאור 2020Text -
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders מאת Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor
יצא לאור 2021Text