Výsledky vyhledávání - Llaci, Lorida

Chapter 13: Methods for CpG methylation array profiling via bisulfite conversion Autor Leti, Fatjon, Llaci, Lorida, Malenica, Ivana, DiStefano, Johanna K.

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Differentially methylated loci in NAFLD cirrhosis are associated with key signaling pathways Autor Gerhard, Glenn S., Malenica, Ivana, Llaci, Lorida, Chu, Xin, Petrick, Anthony T., Still, Christopher D., DiStefano, Johanna K.

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Transcriptomics Analysis of Pericytes from Retinas of Diabetic Animals reveals Novel Genes and Molecular Pathways relevant to Blood-Retinal Barrier alterations in Diabetic Retinopa... Autor Rangasamy, Sampathkumar, Monickaraj, Finny, Legendre, Christophe, Cabrera, Andrea P, Llaci, Lorida, Bilagody, Cherae, McGuire, Paul, Das, Arup

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Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves Autor Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.

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A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss Autor Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle

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De Novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness Autor Schrauwen, Isabelle, Kari, Elina, Mattox, Jacob, Llaci, Lorida, Smeeton, Joanna, Naymik, Marcus, Raible, David W., Knowles, James A., Crump, J. Gage, Huentelman, Matthew J., Friedman, Rick A.

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Loss of Quaking RNA binding protein disrupts the expression of genes associated with astrocyte maturation in mouse brain Autor Sakers, Kristina, Liu, Yating, Llaci, Lorida, Lee, Scott M., Vasek, Michael J., Rieger, Michael A., Brophy, Sean, Tycksen, Eric, Lewis, Renate, Maloney, Susan E., Dougherty, Joseph D.

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Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations Autor Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Liang, Winnie, Friedman, Rick A., Schrauwen, Isabelle

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Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2 Autor Jepsen, Wayne M., Ramsey, Keri, Szelinger, Szabolcs, Llaci, Lorida, Balak, Chris, Belnap, Newell, Bilagody, Cherae, De Both, Matthew, Gupta, Raj, Naymik, Marcus, Pandey, Richa, Piras, Ignazio S., Sanchez‐Castillo, Meredith, Rangasamy, Sampathkumar, Narayanan, Vinodh, Huentelman, Matthew J.

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Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease Autor Piras, Ignazio S., Bleul, Christiane, Schrauwen, Isabelle, Talboom, Joshua, Llaci, Lorida, De Both, Matthew D., Naymik, Marcus A., Halliday, Glenda, Bettencourt, Conceicao, Holton, Janice L., Serrano, Geidy E., Sue, Lucia I., Beach, Thomas G., Stefanova, Nadia, Huentelman, Matthew J.

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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland Autor Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation Autor Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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