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	141.	Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. [electronic resource] by Nishimura, Gen Dai, Jin Lausch, Ekkehart Unger, Sheila Megarbané, André Kitoh, Hiroshi Kim, Ok Hwa Cho, Tae-Joon Bedeschi, Francesca Benedicenti, Francesco Mendoza-Londono, Roberto Silengo, Margherita Schmidt-Rimpler, Maren Spranger, Jurgen Zabel, Bernhard Ikegawa, Shiro Superti-Furga, Andrea Producer: 20100830 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	142.	Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. [electronic resource] by Jaeckle Santos, Lane J Xing, Chao Barnes, Robert B Ades, Lesley C Megarbane, Andre Vidal, Christopher Xuereb, Angela Tarpey, Patrick S Smith, Raffaella Khazab, Mahmoud Shoubridge, Cheryl Partington, Michael Futreal, Andrew Stratton, Michael R Gecz, Jozef Zinn, Andrew R Producer: 20080609 In: Human genetics vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	143.	Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. [electronic resource] by Hoffmann, Katrin Muller, Juliane S Stricker, Sigmar Megarbane, Andre Rajab, Anna Lindner, Tom H Cohen, Monika Chouery, Eliane Adaimy, Lynn Ghanem, Ismat Delague, Valerie Boltshauser, Eugen Talim, Beril Horvath, Rita Robinson, Peter N Lochmüller, Hanns Hübner, Christoph Mundlos, Stefan Producer: 20060914 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	144.	Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. [electronic resource] by Bernard, Geneviève Chouery, Eliane Putorti, Maria Lisa Tétreault, Martine Takanohashi, Asako Carosso, Giovanni Clément, Isabelle Boespflug-Tanguy, Odile Rodriguez, Diana Delague, Valérie Abou Ghoch, Joelle Jalkh, Nadine Dorboz, Imen Fribourg, Sebastien Teichmann, Martin Megarbane, André Schiffmann, Raphael Vanderver, Adeline Brais, Bernard Producer: 20111122 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	145.	Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. [electronic resource] by Klopocki, Eva Schulze, Harald Strauss, Gabriele Ott, Claus-Eric Hall, Judith Trotier, Fabienne Fleischhauer, Silke Greenhalgh, Lynn Newbury-Ecob, Ruth A Neumann, Luitgard M Habenicht, Rolf König, Rainer Seemanova, Eva Megarbane, André Ropers, Hans-Hilger Ullmann, Reinhard Horn, Denise Mundlos, Stefan Producer: 20070313 In: American journal of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	146.	The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. [electronic resource] by Dieterich, Klaus Quijano-Roy, Susana Monnier, Nicole Zhou, Jie Fauré, Julien Smirnow, Daniela Avila Carlier, Robert Laroche, Cécile Marcorelles, Pascale Mercier, Sandra Mégarbané, André Odent, Sylvie Romero, Norma Sternberg, Damien Marty, Isabelle Estournet, Brigitte Jouk, Pierre-Simon Melki, Judith Lunardi, Joël Producer: 20130903 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	147.	Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. [electronic resource] by Sabourdy, Frédérique Mourey, Lionel Le Trionnaire, Emmanuelle Bednarek, Nathalie Caillaud, Catherine Chaix, Yves Delrue, Marie-Ange Dusser, Anne Froissart, Roseline Garnotel, Roselyne Guffon, Nathalie Megarbane, André Ogier de Baulny, Hélène Pédespan, Jean-Michel Pichard, Samia Valayannopoulos, Vassili Verloes, Alain Levade, Thierry Producer: 20160121 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	148.	A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. [electronic resource] by Posch, Maximilian G Gramlich, Michael Sunde, Margaret Schmitt, Katharina R Lee, Stella H Y Richter, Silke Kersten, Andrea Perrot, Andreas Panek, Anna N Al Khatib, Iman H Nemer, Georges Mégarbané, André Dietz, Rainer Stiller, Brigitte Berger, Felix Harvey, Richard P Ozcelik, Cemil Producer: 20100728 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	149.	Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? [electronic resource] by Mégarbané, André Al-Ali, Rashid Choucair, Nancy Lek, Monko Wang, Ena Ladjimi, Moncef Rose, Catherine M Hobeika, Remy Macary, Yvette Temanni, Ramzi Jithesh, Puthen V Chouchane, Aouatef Sastry, Konduru S Thomas, Remy Tomei, Sara Liu, Wei Marincola, Francesco M MacArthur, Daniel Chouchane, Lotfi Producer: 20170515 In: BMC medical genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	150.	A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. [electronic resource] by Jabara, Haifa H Ohsumi, Toshiro Chou, Janet Massaad, Michel J Benson, Halli Megarbane, Andre Chouery, Eliane Mikhael, Raymond Gorka, Oliver Gewies, Andreas Portales, Pierre Nakayama, Toshinori Hosokawa, Hiroyuki Revy, Patrick Herrod, Henry Le Deist, Francoise Lefranc, Gerard Ruland, Jürgen Geha, Raif S Producer: 20130909 In: The Journal of allergy and clinical immunology vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	151.	NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. [electronic resource] by Bouchireb, Karim Boyer, Olivia Gribouval, Olivier Nevo, Fabien Huynh-Cong, Evelyne Morinière, Vincent Campait, Raphaëlle Ars, Elisabet Brackman, Damien Dantal, Jacques Eckart, Philippe Gigante, Maddalena Lipska, Beata S Liutkus, Aurélia Megarbane, André Mohsin, Nabil Ozaltin, Fatih Saleem, Moin A Schaefer, Franz Soulami, Kenza Torra, Roser Garcelon, Nicolas Mollet, Géraldine Dahan, Karin Antignac, Corinne Producer: 20140807 In: Human mutation vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	152.	WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. [electronic resource] by Vodopiutz, Julia Seidl, Rainer Prayer, Daniela Khan, M Imran Mayr, Johannes A Streubel, Berthold Steiß, Jens-Oliver Hahn, Andreas Csaicsich, Dagmar Castro, Christel Assoum, Mirna Müller, Thomas Wieczorek, Dagmar Mancini, Grazia M S Sadowski, Carolin E Lévy, Nicolas Mégarbané, André Godbole, Koumudi Schanze, Denny Hildebrandt, Friedhelm Delague, Valérie Janecke, Andreas R Zenker, Martin Producer: 20160726 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	153.	PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. [electronic resource] by Jobling, Rebekah K Assoum, Mirna Gakh, Oleksandr Blaser, Susan Raiman, Julian A Mignot, Cyril Roze, Emmanuel Dürr, Alexandra Brice, Alexis Lévy, Nicolas Prasad, Chitra Paton, Tara Paterson, Andrew D Roslin, Nicole M Marshall, Christian R Desvignes, Jean-Pierre Roëckel-Trevisiol, Nathalie Scherer, Stephen W Rouleau, Guy A Mégarbané, André Isaya, Grazia Delague, Valérie Yoon, Grace Producer: 20150807 In: Brain : a journal of neurology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	154.	Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. [electronic resource] by McGregor, Lesley Makela, Ville Darling, Susan M Vrontou, Sofia Chalepakis, Georges Roberts, Catherine Smart, Nicola Rutland, Paul Prescott, Natalie Hopkins, Jason Bentley, Elizabeth Shaw, Alison Roberts, Emma Mueller, Robert Jadeja, Shalini Philip, Nicole Nelson, John Francannet, Christine Perez-Aytes, Antonio Megarbane, Andre Kerr, Bronwyn Wainwright, Brandon Woolf, Adrian S Winter, Robin M Scambler, Peter J Producer: 20030703 In: Nature genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	155.	Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. [electronic resource] by Terhal, Paulien A van Dommelen, Paula Le Merrer, Martine Zankl, Andreas Simon, Marleen E H Smithson, Sarah F Marcelis, Carlo Kerr, Bronwyn Kinning, Esther Mansour, Sahar Hennekam, Raoul C M van der Hout, Annemarie H Cormier-Daire, Valerie Lund, Allan M Goodwin, Linda Mégarbané, André Lees, Melissa Betz, Regina C Tobias, Edward S Coucke, Paul Mortier, Geert R Producer: 20130212 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	156.	Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. [electronic resource] by Voigt, Claudia Mégarbané, André Neveling, Kornelia Czeschik, Johanna Christina Albrecht, Beate Callewaert, Bert von Deimling, Florian Hehr, Andreas Falkenberg Smeland, Marie König, Rainer Kuechler, Alma Marcelis, Carlo Puiu, Maria Reardon, Willie Riise Stensland, Hilde Monica Frostad Schweiger, Bernd Steehouwer, Marloes Teller, Christopher Martin, Marcel Rahmann, Sven Hehr, Ute Brunner, Han G Lüdecke, Hermann-Josef Wieczorek, Dagmar Producer: 20140102 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	157.	Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. [electronic resource] by Bornholdt, Dorothea Atkinson, T Prescott Bouadjar, Bakar Catteau, Benoit Cox, Helen De Silva, Deepthi Fischer, Judith Gunasekera, Chalukya N Hadj-Rabia, Smaïl Happle, Rudolf Holder-Espinasse, Muriel Kaminski, Elke König, Arne Mégarbané, André Mégarbané, Hala Neidel, Ulrike Oeffner, Frank Oji, Vinzenz Theos, Amy Traupe, Heiko Vahlquist, Anders van Bon, Bregje W Virtanen, Marie Grzeschik, Karl-Heinz Producer: 20130906 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	158.	SMOC1 is essential for ocular and limb development in humans and mice. [electronic resource] by Okada, Ippei Hamanoue, Haruka Terada, Koji Tohma, Takaya Megarbane, Andre Chouery, Eliane Abou-Ghoch, Joelle Jalkh, Nadine Cogulu, Ozgur Ozkinay, Ferda Horie, Kyoji Takeda, Junji Furuichi, Tatsuya Ikegawa, Shiro Nishiyama, Kiyomi Miyatake, Satoko Nishimura, Akira Mizuguchi, Takeshi Niikawa, Norio Hirahara, Fumiki Kaname, Tadashi Yoshiura, Koh-Ichiro Tsurusaki, Yoshinori Doi, Hiroshi Miyake, Noriko Furukawa, Takahisa Matsumoto, Naomichi Saitsu, Hirotomo Producer: 20110203 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	159.	Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. [electronic resource] by Iqbal, Zafar Cejudo-Martin, Pilar de Brouwer, Arjan van der Zwaag, Bert Ruiz-Lozano, Pilar Scimia, M Cecilia Lindsey, James D Weinreb, Robert Albrecht, Beate Megarbane, Andre Alanay, Yasemin Ben-Neriah, Ziva Amenduni, Mariangela Artuso, Rosangela Veltman, Joris A van Beusekom, Ellen Oudakker, Astrid Millán, José Luis Hennekam, Raoul Hamel, Ben Courtneidge, Sara A van Bokhoven, Hans Producer: 20100319 In: American journal of human genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	160.	Vibratory Urticaria Associated with a Missense Variant in ADGRE2. [electronic resource] by Boyden, Steven E Desai, Avanti Cruse, Glenn Young, Michael L Bolan, Hyejeong C Scott, Linda M Eisch, A Robin Long, R Daniel Lee, Chyi-Chia R Satorius, Colleen L Pakstis, Andrew J Olivera, Ana Mullikin, James C Chouery, Eliane Mégarbané, André Medlej-Hashim, Myrna Kidd, Kenneth K Kastner, Daniel L Metcalfe, Dean D Komarow, Hirsh D Producer: 20160301 In: The New England journal of medicine vol. 374 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 191 results.