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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 de Mollerat, X. J.; Gurrieri, Fiorella; Morgan, C. T.; Sangiorgi, Eugenio; ... Schwartz, C. E. 2003
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A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years Savioz, Armand; Blouin, Jean-Louis; Guidi, S.; Antonarakis, Stylianos; Bouras, Constantin 1997
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A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q Dauvilliers, Yves; Blouin, Jean-Louis; Neidhart, Elisabeth; Carlander, Bertrand; ... Tafti, Mehdi 2004
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A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination Blouin, Jean-Louis; Christie, D. H.; Gos, A.; Lynn, A.; ... Antonarakis, Stylianos 1995
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36 Radhakrishna, U.; Blouin, Jean-Louis; Solanki, J. V.; Dhoriani, G. M.; Antonarakis, Stylianos 1996
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Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor Landau, Ruth; Morales, M. A.; Antonarakis, Stylianos; Blouin, Jean-Louis; Smiley, R. M. 2005
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Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping Bartoloni, Lucia; Blouin, Jean-Louis; Sainsbury, A. J.; Gos, A.; ... Antonarakis, Stylianos 1999
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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict 2007
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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically Blouin, Jean-Louis; Binkert, F.; Antonarakis, Stylianos 1994
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Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
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Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci Stratakis, C. A.; Kirschner, L. S.; Taymans, S. E.; Tomlinson, I. P.; ... Carney, J. A. 1998
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Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos 1995
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Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes Klee, Philippe; Dirlewanger, Mijam; Lavallard, Vanessa; Mclin, Valérie Anne; ... Schwitzgebel Luscher, Valérie 2018
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv 2018
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Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 Lapenta, V.; Sossi, V.; Gosset, P.; Vayssettes, C.; ... Brahe, C. 1998
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Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy von Laer Tschudin, Letizia; Schwitzgebel Luscher, Valérie; von Scheven-Gête, Annette; Blouin, Jean-Louis; ... Phan-Hug, Franziska 2015
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Dissecting genetics of highly heterogeneous mendelian disorders: the example of Primary Ciliary Dyskinesia Blouin, Jean-Louis 2011
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