NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

ανά Pehlivan, Davut, Hullings, Melanie, Carvalho, Claudia M.B., Gonzaga-Jauregui, Claudia G., Loy, Elizabeth, Jackson, Laird G., Krantz, Ian D., Deardorff, Matthew A., Lupski, James R.
Έκδοση 2012

Improved characterization of medically relevant fungi in the human respiratory tract using next-generation sequencing

ανά Bittinger, Kyle, Charlson, Emily S, Loy, Elizabeth, Shirley, David J, Haas, Andrew R, Laughlin, Alice, Yi, Yanjie, Wu, Gary D, Lewis, James D, Frank, Ian, Cantu, Edward, Diamond, Joshua M, Christie, Jason D, Collman, Ronald G, Bushman, Frederic D
Τόπος έκδοσης Genome Biol (2014)

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

ανά Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J
Έκδοση 2012

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

ανά Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J
Έκδοση 2012