检索结果 - Abramowicz, Marc

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) 由 Desir, Julie, Abramowicz, Marc

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Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15 由 Jamieson, C. Ruth, Govaerts, Cédric, Abramowicz, Marc J.

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New-Onset Diabetes After Renal Transplantation: Risk assessment and management 由 Ghisdal, Lidia, Van Laecke, Steven, Abramowicz, Marc J., Vanholder, Raymond, Abramowicz, Daniel

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Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1 由 Duerinckx, Sarah, Meuwissen, Marije, Perazzolo, Camille, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc

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Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32 由 Jamieson, C. Ruth, Fryns, Jean-Pierre, Jacobs, Jos, Matthijs, Gert, Abramowicz, Marc J.

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Higher Degree of Chromosome Mosaicism in Preimplantation Embryos from Carriers of Robertsonian Translocation t(13;14) in Comparison with Embryos from Karyotypically Normal IVF Pati... 由 Emiliani, Serena, Gonzalez-Merino, Eric, Van den Bergh, Marc, Abramowicz, Marc, Englert, Yvon

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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma 由 Désir, Julie, Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc

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TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy 由 Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique

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Severe congenital microcephaly with AP4M1 mutation, a case report 由 Duerinckx, Sarah, Verhelst, Helene, Perazzolo, Camille, David, Philippe, Desmyter, Laurence, Pirson, Isabelle, Abramowicz, Marc

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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation 由 Christophe-Hobertus, Christiane, Kooy, Frank, Gecz, Jozef, Abramowicz, Marc J, Holinski-Feder, Elke, Schwartz, Charles, Christophe, Daniel

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Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea 由 Sassi, Asma, Désir, Julie, Duerinckx, Sarah, Soblet, Julie, Van Dooren, Sonia, Bonduelle, Maryse, Abramowicz, Marc, Delbaere, Anne

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Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke 由 Murray, Lydia S., Lu, Yinhui, Taggart, Aislynn, Van Regemorter, Nicole, Vilain, Catheline, Abramowicz, Marc, Kadler, Karl E., Van Agtmael, Tom

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy 由 Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J

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LARS2-Perrault syndrome: a new case report and literature review 由 Carminho-Rodrigues, Maria Teresa, Klee, Phillipe, Laurent, Sacha, Guipponi, Michel, Abramowicz, Marc, Cao-van, Hélène, Guinand, Nils, Paoloni-Giacobino, Ariane

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UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort 由 Dinic, Miriana, Ghisdal, Lidia, Racapé, Judith, Thibaudin, Lise, Gatault, Philippe, Essig, Marie, Le Meur, Yann, Noël, Christian, Touchard, Guy, Merville, Pierre, Ajarchouh, Zineb, Mariat, Christophe, Abramowicz, Marc, Abramowicz, Daniel, Alamartine, Eric

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Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss 由 Van Heurck, Roxane, Carminho-Rodrigues, Maria Teresa, Ranza, Emmanuelle, Stafuzza, Caterina, Quteineh, Lina, Gehrig, Corinne, Hammar, Eva, Guipponi, Michel, Abramowicz, Marc, Senn, Pascal, Guinand, Nils, Cao-Van, Helene, Paoloni-Giacobino, Ariane

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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients 由 Laurent, Sacha, Gehrig, Corinne, Nouspikel, Thierry, Amr, Sami S, Oza, Andrea, Murphy, Elissa, Vannier, Anne, Béna, Frédérique Sloan, Carminho-Rodrigues, Maria Teresa, Blouin, Jean-Louis, Van, Hélène Cao, Abramowicz, Marc, Paoloni-Giacobino, Ariane, Guipponi, Michel

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TCF7L2 Polymorphism Associates with New-Onset Diabetes after Transplantation 由 Ghisdal, Lidia, Baron, Christophe, Le Meur, Yannick, Lionet, Arnaud, Halimi, Jean-Michel, Rerolle, Jean-Philippe, Glowacki, François, Lebranchu, Yvon, Drouet, Mireille, Noël, Christian, El Housni, Hakim, Cochaux, Pascale, Wissing, Karl Martin, Abramowicz, Daniel, Abramowicz, Marc

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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly 由 Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline

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Donor-Derived Myeloid Heme Oxygenase-1 Controls the Development of Graft-Versus-Host Disease 由 Spilleboudt, Chloé, De Wilde, Virginie, Lewalle, Philippe, Cabanne, Ludovic, Leclerc, Mathieu, Beckerich, Florence, Bories, Dominique, Cardoso, Silvia, Soares, Miguel P., Vokaer, Benoît, Hougardy, Jean-Michel, Flamand, Véronique, Racapé, Judith, Abramowicz, Marc, Maury, Sébastien, Le Moine, Alain

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