Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent von Shiwach, RS, Lindenbaum, RH

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MATERNAL SERUM ALPHA-FETOPROTEIN MEASUREMENT: A SCREENING TEST FOR DOWN SYNDROME von Cuckle, HowardS, Wald, NicholasJ, Lindenbaum, RichardH

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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker von Shelbourne, Peggy, Davies, June, Buxton, Jessica, Anvret, Maria, Blennow, Elisabeth, Bonduelle, Maryse, Schmedding, Eric, Glass, Ian, Lindenbaum, Richard, Lane, Russell, Williamson, Robert, Johnson, Keith

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PRE-ECLAMPSIA AND TRISOMY 13: A POSSIBLE ASSOCIATION von Boyd, PatriciaA, Lindenbaum, RichardH, Redman, Christopher

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Prevalence of Huntington's Disease Among Uk von Shiwach, Raj S., Lindenbaum, Richard H.

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Prenatal diagnosis of fragile X syndrome von Hirst, Mark, Knight, Samantha, Davies, Kay, Cross, Gareth, Ocraft, Kevin, Raeburn, Sandy, Heeger, Shauna, Eunpu, Deborah, Jenkins, EdmundC, Lindenbaum, Richard, Dobkin, CarlS, Ding, Xiao-Hua, Jenkins, EdmundC, Krawczun, MichaelS, Ted Brown, W, Goonewardena, Ponmani, Willner, Judy, Benson, Cindy, Heitz, Dominique, Rousseau, Francois

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Benign (non-paroxysmal) familial chorea. Paediatric perspectives von Sleigh, G, Lindenbaum, R H

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Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype von Schinzel, Albert, Binkert, Franz, Lillington, Debra M, Sands, Margaret, Stocks, Richard J, Lindenbaum, Richard H, Matthews, Helen, Sheridan, Hilary

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HARE-LIP IN LARSEN'S SYNDROME von Salmon, MichaelA, Lindenbaum, Richard

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A survey of diagnostic amniocenteses in Oxford from 1974-1981 von Terzian, Emanuela, Boreham, Jillian, Cuckle, Howard S., Wald, Nicholas J., Bobrow, Martin, Lindenbaum, Richard, Turnbull, A. C.

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Dispermic origin of a 69,XXY triploid von Blackwell, N L, Keeling, J W, Lindenbaum, R H

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bioalcidae, samjs and vcffilterjs: object-oriented formatters and filters for bioinformatics files von Lindenbaum, Pierre, Redon, Richard

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Molecular studies of the fragile X syndrome von Knight, Samantha J. L., Hirst, Mark C., Roche, Anya, Christodoulou, Zoe, Huson, Susan M., Winter, Robin, Fitchett, Margaret, McKinley, Mark J., Lindenbaum, Richard H., Nakahori, Yutaka, Davies, Kay E.

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Detection of differentially abundant cell subpopulations in scRNA-seq data von Zhao, Jun, Jaffe, Ariel, Li, Henry, Lindenbaum, Ofir, Sefik, Esen, Jackson, Ruaidhrí, Cheng, Xiuyuan, Flavell, Richard A., Kluger, Yuval

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease von Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

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mod_bio: Apache modules for Next-Generation sequencing data von Lindenbaum, Pierre, Redon, Richard

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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish von Odelin, Gaëlle, Faucherre, Adèle, Marchese, Damien, Pinard, Amélie, Jaouadi, Hager, Le Scouarnec, Solena, Chiarelli, Raphaël, Achouri, Younes, Faure, Emilie, Herbane, Marine, Théron, Alexis, Avierinos, Jean-François, Jopling, Chris, Collod-Béroud, Gwenaëlle, Rezsohazy, René, Zaffran, Stéphane

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Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line von Geryk, Michelle, Canac, Robin, Forest, Virginie, Lindenbaum, Pierre, Girardeau, Aurore, Baudic, Manon, Baron, Estelle, Bibonne, Anne, Chariau, Caroline, Kyndt, Florence, Redon, Richard, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Barc, Julien, Charpentier, Flavien

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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death von Bezzina, Connie R, Barc, Julien, Mizusawa, Yuka, Remme, Carol Ann, Gourraud, Jean-Baptiste, Simonet, Floriane, Verkerk, Arie O, Schwartz, Peter J, Crotti, Lia, Dagradi, Federica, Guicheney, Pascale, Fressart, Véronique, Leenhardt, Antoine, Antzelevitch, Charles, Bartkowiak, Susan, Borggrefe, Martin, Schimpf, Rainer, Schulze-Bahr, Eric, Zumhagen, Sven, Behr, Elijah R, Bastiaenen, Rachel, Tfelt-Hansen, Jacob, Olesen, Morten Salling, Kääb, Stefan, Beckmann, Britt M, Weeke, Peter, Watanabe, Hiroshi, Endo, Naoto, Minamino, Tohru, Horie, Minoru, Ohno, Seiko, Hasegawa, Kanae, Makita, Naomasa, Nogami, Akihiko, Shimizu, Wataru, Aiba, Takeshi, Froguel, Philippe, Balkau, Beverley, Lantieri, Olivier, Torchio, Margherita, Wiese, Cornelia, Weber, David, Wolswinkel, Rianne, Coronel, Ruben, Boukens, Bas J, Bézieau, Stéphane, Charpentier, Eric, Chatel, Stéphanie, Despres, Aurore, Gros, Françoise, Kyndt, Florence, Lecointe, Simon, Lindenbaum, Pierre, Portero, Vincent, Violleau, Jade, Gessler, Manfred, Tan, Hanno L, Roden, Dan M, Christoffels, Vincent M, Le Marec, Hervé, Wilde, Arthur A, Probst, Vincent, Schott, Jean-Jacques, Dina, Christian, Redon, Richard

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy von Colin, Estelle, Daniel, Jens, Ziegler, Alban, Wakim, Jamal, Scrivo, Aurora, Haack, Tobias B., Khiati, Salim, Denommé, Anne-Sophie, Amati-Bonneau, Patrizia, Charif, Majida, Procaccio, Vincent, Reynier, Pascal, Aleck, Kyrieckos A., Botto, Lorenzo D., Herper, Claudia Lena, Kaiser, Charlotte Sophia, Nabbout, Rima, N’Guyen, Sylvie, Mora-Lorca, José Antonio, Assmann, Birgit, Christ, Stine, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Génin, Emmanuelle, Campion, Dominique, Dartigues, Jean-François, Deleuze, Jean-François, Lambert, Jean-Charles, Redon, Richard, Ludwig, Thomas, Grenier-Boley, Benjamin, Letort, Sébastien, Lindenbaum, Pierre, Meyer, Vincent, Quenez, Olivier, Dina, Christian, Bellenguez, Céline, -Le Clézio, Camille Charbonnier, Giemza, Joanna, Chatel, Stéphanie, Férec, Claude, Le Marec, Hervé, Letenneur, Luc, Nicolas, Gaël, Rouault, Karen, Bacq, Delphine, Boland, Anne, Lechner, Doris, Miranda-Vizuete, Antonio, Hoffmann, Georg F., Lenaers, Guy, Bomont, Pascale, Liebau, Eva, Bonneau, Dominique

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