Результаты поиска - Llaci, Lorida

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

Полный текст Полный текст Полный текст

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

Полный текст Полный текст Полный текст

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

Полный текст Полный текст Полный текст

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

Полный текст Полный текст Полный текст

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss по 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

Полный текст Полный текст Полный текст

De Novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness по 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.

Полный текст Полный текст Полный текст

Loss of Quaking RNA binding protein disrupts the expression of genes associated with astrocyte maturation in mouse brain по 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.

Полный текст Полный текст Полный текст

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations по 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

Полный текст Полный текст Полный текст

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2 по 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.

Полный текст Полный текст Полный текст

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease по 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.

Полный текст Полный текст Полный текст

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland по 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

Полный текст Полный текст Полный текст

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation по 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

Полный текст Полный текст Полный текст