Search Results - "Rabie, Grace"

Genomic analysis of inherited hearing loss in the Palestinian population by Rayyan, Amal Abu, Kamal, Lara, Casadei, Silvia, Brownstein, Zippora, Zahdeh, Fouad, Shahin, Hashem, Canavati, Christina, Dweik, Dima, Jaraysa, Tamara, Rabie, Grace, Carlson, Ryan J., Gulsuner, Suleyman, Lee, Ming K., Avraham, Karen B., Walsh, Tom, King, Mary-Claire, Kanaan, Moien N.

“…The genetic characterization of a common phenotype for an entire population reveals both the causes of that phenotype for that place and the power of…”
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A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss by Aburayyan, Amal, Carlson, Ryan J, Rabie, Grace N, Lee, Ming K, Gulsuner, Suleyman, Walsh, Tom, Avraham, Karen B, Kanaan, Moien N, King, Mary-Claire

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Using multi-scale genomics to associate poorly annotated genes with rare diseases by Canavati, Christina, Sherill-Rofe, Dana, Kamal, Lara, Bloch, Idit, Zahdeh, Fouad, Sharon, Elad, Terespolsky, Batel, Allan, Islam Abu, Rabie, Grace, Kawas, Mariana, Kassem, Hanin, Avraham, Karen B, Renbaum, Paul, Levy-Lahad, Ephrat, Kanaan, Moien, Tabach, Yuval

“…Next-generation sequencing (NGS) has significantly transformed the landscape of identifying disease-causing genes associated with genetic disorders. However, a…”
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Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis by Elson, Ari, Stein, Merle, Rabie, Grace, Barnea-Zohar, Maayan, Winograd-Katz, Sabina, Reuven, Nina, Shalev, Moran, Sekeres, Juraj, Kanaan, Moien, Tuckermann, Jan, Geiger, Benjamin

“…Bone homeostasis is a complex, multi-step process, which is based primarily on a tightly orchestrated interplay between bone formation and bone resorption that…”
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Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities by Kamal, Lara, Pierce, Sarah B, Canavati, Christina, Rayyan, Amal Abu, Jaraysa, Tamara, Lobel, Orit, Lolas, Suhair, Norquist, Barbara M, Rabie, Grace, Zahdeh, Fouad, Levy-Lahad, Ephrat, King, Mary-Claire, Kanaan, Moien N

“…Fanconi anemia is a genetically and phenotypically heterogeneous disorder characterized by congenital anomalies, bone marrow failure, cancer, and sensitivity…”
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