Le dépistage néonatal de la drépanocytose en France métropolitaine von Bardakjian, J, Benkerrou, M, Bernaudin, F, Briard, M.L, Ducrocq, R, Lambilliotte, A, Léna-Russo, D, de Montalembert, M, Thuret, I, Bégué, P, Elion, J, Galactéros, F

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Neonatal screening of sickle cell anemia in metropolitan France von Bardakjian, J, Benkerrou, M, Bernaudin, F, Briard, M L, Ducrocq, R, Lambilliotte, A, Léna-Russo, D, de Montalembert, M, Thuret, I, Bégué, P, Elion, J, Galactéros, F

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Hematological values of 163 normal fetuses between 18 and 30 weeks of gestation von FORESTIER, F, DAFFOS, F, GALACTEROS, F, BARDAKJIAN, J, RAINAUT, M, BEUZARD, Y

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A new Case of Hemoglobin Providence (α2 β2 82 (Ef6) Lys → Asn or Asp) Discovered in a French Caucasian Family. Structural and Functional Studies von Bardakjian, J., Leclerc, L., Blouquit, Y., Oules, O., Rafaillat, D., Arous, N., Bohn, B., Poyart, C., Rosa, J., Galacteros, F.

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Role of cellular orientation in electrical coupling between gastrointestinal smooth muscle von VIGMOND, E. J, BARDAKJIAN, B. L

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Hemoglobin J Iran alpha 2 beta 2 77 (EF1) his----Asp in a Russian-Armenian family von Delanoe-Garin, J, Rhoda, M D, Craescu, C T, Bardakjian, J, Blouquit, Y, Lacombe, C, Arous, N, Poyart, C, Ganeval, D, Girot, R

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Skin fibroblast beta-adrenergic receptor function in manic-depressive illness von BERRETTINI, W. H, BARDAKJIAN, J, CAPPELLARI, c. B, BARNETT, A. L. JR, ALBRIGHT, a, NURNBERGER, J. I. JR, GERSHON, E. S

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Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation von Lang, Min, Wither, Robert G, Colic, Sinisa, Wu, Chiping, Monnier, Philippe P, Bardakjian, Berj L, Zhang, Liang, Eubanks, James H

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The origin of segmentation motor activity in the intestine von Huizinga, Jan D., Chen, Ji-Hong, Fang Zhu, Yong, Pawelka, Andrew, McGinn, Ryan J., Bardakjian, Berj L., Parsons, Sean P., Kunze, Wolfgang A., Wu, Richard You, Bercik, Premysl, Khoshdel, Amir, Chen, Sifeng, Yin, Sheng, Zhang, Qian, Yu, Yuanjie, Gao, Qingmin, Li, Kongling, Hu, Xinghai, Zarate, Natalia, Collins, Phillip, Pistilli, Marc, Ma, Junling, Zhang, Ruixue, Chen, David

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The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP von Umano, A., Fang, K., Qu, Z., Scaglione, J.B., Altinok, S., Treadway, C.J., Wick, E.T., Paulakonis, E., Karunanayake, C., Chou, S., Bardakjian, T.M., Gonzalez-Alegre, P., Page, R.C., Schisler, J.C., Brown, N.G., Yan, D., Scaglione, K.M.

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Hemoglobin J Iran α2 β2 77 (EF1) His à Asp in: A Russian-Armenian Family von Delanoe-Garin, J., Rhoda, M. D., Craescu, C. T., Bardakjian, J., Blouquit, Y., Lacombe, C., Arous, N., Poyart, C., Ganeval, D., Girot, R., Riou, J., Galacteros, F.

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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype von Schilter, KF, Schneider, A, Bardakjian, T, Soucy, J-F, Tyler, RC, Reis, LM, Semina, EV

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Action ofβ-(4-chlorophenyl-GABA) on uptake and metabolism of GABA in different subcellular fractions of rat brain von Tardy, M., Rolland, B., Bardakdjian, J., Gonnard, P.

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects von Slavotinek, A.M., Garcia, S.T., Chandratillake, G., Bardakjian, T., Ullah, E., Wu, D., Umeda, K., Lao, R., Tang, P.L.-F., Wan, E., Madireddy, L., Lyalina, S., Mendelsohn, B.A., Dugan, S., Tirch, J., Tischler, R., Harris, J., Clark, M.J., Chervitz, S., Patwardhan, A., West, J.M., Ursell, P., de Alba Campomanes, A., Schneider, A., Kwok, P.-y., Baranzini, S., Chen, R.O.

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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice von Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R

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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome von Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.

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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts von Dratch, Laynie, Azage, Meron, Baldwin, Aaron, Johnson, Kelsey, Paul, Rachel A., Bardakjian, Tanya M., Michon, Sara-Claude, Amado, Defne A., Baer, Michael, Deik, Andres F., Elman, Lauren B., Gonzalez-Alegre, Pedro, Guo, Michael H., Hamedani, Ali G., Irwin, David J., Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin, Tropea, Thomas F., Scherer, Steven S., Ellis, Colin A.

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Monogenic variants in dystonia: an exome-wide sequencing study von Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Vill, Katharina, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane

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Bidirectional multisite seizure propagation in the intact isolated hippocampus: The multifocality of the seizure “focus” von Derchansky, M., Rokni, D., Rick, J.T., Wennberg, R., Bardakjian, B.L., Zhang, L., Yarom, Y., Carlen, P.L.

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A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family von Ng, WY, Pasutto, F, Bardakjian, TM, Wilson, MJ, Watson, G, Schneider, A, Mackey, DA, Grigg, JR, Zenker, M, Jamieson, RV

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