Resultats de la cerca - Choi, Murim

Chordin Is a Modifier of Tbx1 for the Craniofacial Malformations of 22q11 Deletion Syndrome Phenotypes in Mouse per Choi, Murim, Klingensmith, John

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Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases per Goh, Gerald, Choi, Murim

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Ultra-rare Disease and Genomics-Driven Precision Medicine per Lee, Sangmoon, Choi, Murim

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Endogenous BMP antagonists regulate mammalian neural crest generation and survival per Anderson, Ryan M., Stottmann, Rolf W., Choi, Murim, Klingensmith, John

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The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms per Stottmann, Rolf W., Berrong, Mark, Matta, Karen, Choi, Murim, Klingensmith, John

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BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium per Stottmann, Rolf W., Choi, Murim, Mishina, Yuji, Meyers, Erik N., Klingensmith, John

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On optimal pooling designs to identify rare variants through massive resequencing per Lee, Joon Sang, Choi, Murim, Yan, Xiting, Lifton, Richard P, Zhao, Hongyu

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Serial exome analysis of disease progression in premalignant gammopathies per Zhao, Siming, Choi, Murim, Heuck, Christoph, Mane, Shrikant, Barlogie, Bart, Lifton, Richard P., Dhodapkar, Madhav V.

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A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations per Han, Ji Yeon, Kim, Soo Yeon, Cheon, Jung-Eun, Choi, Murim, Lee, Jin Sook, Chae, Jong-Hee

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Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing per Cromer, M. Kyle, Starker, Lee F., Choi, Murim, Udelsman, Robert, Nelson-Williams, Carol, Lifton, Richard P., Carling, Tobias

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Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features per Kim, Hyuna, Lee, Jin Sook, Lee, Youngha, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Chae, Jong-Hee

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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning per Fakhro, Khalid A., Choi, Murim, Ware, Stephanie M., Belmont, John W., Towbin, Jeffrey A., Lifton, Richard P., Khokha, Mustafa K., Brueckner, Martina

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Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates per Ment, Laura R., Ådén, Ulrika, Lin, Aiping, Kwon, Soo Hyun, Choi, Murim, Hallman, Mikko, Lifton, Richard P., Zhang, Heping, Bauer, Charles R.

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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome per Kim, Jong Seop, Jeon, Hyoungseok, Lee, Hyeran, Ko, Jung Min, Kim, Yonghwan, Choi, Murim, Nishimura, Gen, Kim, Ok-Hwa, Cho, Tae-Joon

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Expression patterns of astrocyte elevated gene-1 (AEG-1) during development of the mouse embryo per Jeon, Hyun Yong, Choi, Murim, Howlett, Eric L., Vozhilla, Nikollaq, Yoo, Byoung Kwon, Lloyd, Joyce A., Sarkar, Devanand, Lee, Seok-Geun, Fisher, Paul B.

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The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma per Kang, Jin Hyun, Lee, Seung Ho, Lee, Jawon, Choi, Murim, Cho, Junhun, Kim, Seok Jin, Kim, Won Seog, Ko, Young Hyeh, Yoo, Hae Yong

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10 per Scholl, Ute I., Choi, Murim, Liu, Tiewen, Ramaekers, Vincent T., Häusler, Martin G., Grimmer, Joanne, Tobe, Sheldon W., Farhi, Anita, Nelson-Williams, Carol, Lifton, Richard P.

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Data of methylome and transcriptome derived from human dilated cardiomyopathy per Jo, Bong-Seok, Koh, In-Uk, Bae, Jae-Bum, Yu, Ho-Yeong, Jeon, Eun-Seok, Lee, Hae-Young, Kim, Jae-Joong, Choi, Murim, Choi, Sun Shim

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ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta per Wang, Shih-Kai, Choi, Murim, Richardson, Amelia S., Reid, Bryan M., Lin, Brent P., Wang, Susan J., Kim, Jung-Wook, Simmer, James P., Hu, Jan C.-C.

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Individual Exome Analysis in Diagnosis and Management of Pediatric Liver Failure of Indeterminate Etiology per Vilarinho, Sílvia, Choi, Murim, Jain, Dhanpat, Malhotra, Ajay, Kulkarni, Sanjay, Pashankar, Dinesh, Phatak, Uma, Patel, Mohini, Bale, Allen, Mane, Shrikant, Lifton, Richard P., Mistry, Pramod K.

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