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	101.	Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. [electronic resource] by Capo-Chichi, José-Mario Mehawej, Cybel Delague, Valerie Caillaud, Catherine Khneisser, Issam Hamdan, Fadi F Michaud, Jacques L Kibar, Zoha Mégarbané, André Producer: 20161011 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. [electronic resource] by Claus, Stephanie Fischer, Judith Mégarbané, Hala Mégarbané, André Jobard, Florence Debret, Romain Peyrol, Simone Saker, Safa Devillers, Martine Sommer, Pascal Damour, Odile Producer: 20080624 In: The Journal of investigative dermatology vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. [electronic resource] by Velasco, Guillaume Walton, Emma L Sterlin, Delphine Hédouin, Sabrine Nitta, Hirohisa Ito, Yuya Fouyssac, Fanny Mégarbané, André Sasaki, Hiroyuki Picard, Capucine Francastel, Claire Producer: 20141112 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. [electronic resource] by Janssen, Erin Tsitsikov, Erdyni Al-Herz, Waleed Lefranc, Gerard Megarbane, Andre Dasouki, Majed Bonilla, Francisco A Chatila, Talal Schneider, Lynda Geha, Raif S Producer: 20140408 In: Clinical immunology (Orlando, Fla.) vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. [electronic resource] by Medlej-Hashim, Myrna Mustapha, Mirna Chouery, Eliane Weil, Dominique Parronaud, Joel Salem, Nabiha Delague, Valérie Loiselet, Jacques Lathrop, Mark Petit, Christine Mégarbané, André Producer: 20030221 In: European journal of human genetics : EJHG vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. [electronic resource] by Bidinost, Carla Matsumoto, Masayuki Chung, Daniel Salem, Nabiha Zhang, Kang Stockton, David W Khoury, Antoine Megarbane, Andre Bejjani, Bassem A Traboulsi, Elias I Producer: 20060427 In: Investigative ophthalmology & visual science vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome. [electronic resource] by Mégarbané, André Chouery, Eliane Mignon-Ravix, Cécile El Sabbagh, Sandra Corbani, Sandra Ghoch, Joelle Abou Jalkh, Nadine Mehawej, Cybel Lévy, Nicolas Villard, Laurent Producer: 20110801 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. [electronic resource] by Chouery, Eliane Delague, Valérie Jalkh, Nadine Salem, Nabiha Kfoury, Jessy Rodriguez, Diana Chabrol, Brigitte Boespflug-Tanguy, Odile Lévy, Nicolas Serre, Jean Louis Mégarbané, André Producer: 20110506 In: Neurogenetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Collaborative genomics for human health and cooperation in the Mediterranean region. [electronic resource] by Ozçelik, Tayfun Kanaan, Moien Avraham, Karen B Yannoukakos, Drakoulis Mégarbané, André Tadmouri, Ghazi O Middleton, Lefkos Romeo, Giovanni King, Mary-Claire Levy-Lahad, Ephrat Producer: 20100813 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. [electronic resource] by Gannagé-Yared, Marie-Hélène Makrythanasis, Periklis Chouery, Eliane Sobacchi, Cristina Mehawej, Cybel Santoni, Federico A Guipponi, Michel Antonarakis, Stylianos E Hamamy, Hanan Mégarbané, André Producer: 20150610 In: Bone vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Next-generation sequencing in familial breast cancer patients from Lebanon. [electronic resource] by Jalkh, Nadine Chouery, Eliane Haidar, Zahraa Khater, Christina Atallah, David Ali, Hamad Marafie, Makia J Al-Mulla, Mohamed R Al-Mulla, Fahd Megarbane, Andre Producer: 20171027 In: BMC medical genomics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. [electronic resource] by Mustapha, Mirna Chouery, Eliane Torchard-Pagnez, Delphine Nouaille, Sylvie Khrais, Awni Sayegh, Fouad N Mégarbané, André Loiselet, Jacques Lathrop, Mark Petit, Christine Weil, Dominique Producer: 20020621 In: Human genetics vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. [electronic resource] by Medlej-Hashim, Myrna Serre, Jean-Louis Corbani, Sandra Saab, Odile Jalkh, Nadine Delague, Valérie Chouery, Eliane Salem, Nabiha Loiselet, Jacques Lefranc, Gérard Mégarbané, André Producer: 20060228 In: European journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	114.	Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. [electronic resource] by Faivre, Laurence Mégarbané, André Alswaid, Abdulrahman Zylberberg, Louise Aldohayan, Noura Campos-Xavier, Belinda Bacq, Delphine Legeai-Mallet, Laurence Bonaventure, Jacky Munnich, Arnold Cormier-Daire, Valérie Producer: 20020621 In: Human genetics vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. [electronic resource] by Dagoneau, Nathalie Benoist-Lasselin, Catherine Huber, Céline Faivre, Laurence Mégarbané, André Alswaid, Abdulrahman Dollfus, Hélène Alembik, Yves Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie Producer: 20050103 In: American journal of human genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	116.	2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. [electronic resource] by Sass, Jörn Oliver Ensenauer, Regina Röschinger, Wulf Reich, Horst Steuerwald, Ulrike Schirrmacher, Oliver Engel, Katharina Häberle, Johannes Andresen, Brage Storstein Mégarbané, André Lehnert, Willy Zschocke, Johannes Producer: 20080410 In: Molecular genetics and metabolism vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. [electronic resource] by Polok, Bozena Escher, Pascal Ambresin, Aude Chouery, Eliane Bolay, Sylvain Meunier, Isabelle Nan, Francis Hamel, Christian Munier, Francis L Thilo, Bernard Mégarbané, André Schorderet, Daniel F Producer: 20090323 In: American journal of human genetics vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. [electronic resource] by Faivre, Laurence Dollfus, Hélène Lyonnet, Stanislas Alembik, Yves Mégarbané, André Samples, John Gorlin, Robert J Alswaid, Abdulrahman Feingold, Josué Le Merrer, Martine Munnich, Arnold Cormier-Daire, Valérie Producer: 20040716 In: American journal of medical genetics. Part A vol. 123A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	A new familial sclerosing bone dysplasia. [electronic resource] by Chouery, Eliane Pangrazio, Alessandra Frattini, Annalisa Villa, Anna Van Wesenbeeck, Liesbeth Piters, Elke Van Hul, Wim Coxon, Fraser P Schouten, Tabitha Helfrich, Miep Lefranc, Gérard Mégarbané, André Producer: 20101027 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. [electronic resource] by Liu, Hui El Zein, Loubna Kruse, Martin Guinamard, Romain Beckmann, Alf Bozio, André Kurtbay, Güven Mégarbané, André Ohmert, Iris Blaysat, Gérard Villain, Elisabeth Pongs, Olaf Bouvagnet, Patrice Producer: 20101202 In: Circulation. Cardiovascular genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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