検索結果 - Bober, Michael

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review 著者: Bober, Michael B., Jackson, Andrew P.

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Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review 著者: Bober, Michael B., Jackson, Andrew P.

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Maternal Mixed Connective Tissue Disease and Offspring with Chondrodysplasia Punctata 著者: Schulz, Steffan W., Bober, Michael, Johnson, Caitlyn, Braverman, Nancy, Jimenez, Sergio A.

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Growth in individuals with Saul–Wilson syndrome 著者: Ferreira, Carlos R., Niiler, Timothy, Duker, Angela L., Jackson, Andrew P., Bober, Michael B.

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A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations 著者: Santana, Adolfredo, Franzone, Jeanne M., McGreal, Cristina M., Kruse, Richard W., Bober, Michael B.

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The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome 著者: Farach, Laura S., Little, Mary E., Duker, Angela L., Logan, Clare V., Jackson, Andrew, Hecht, Jaqueline T., Bober, Michael

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Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor 著者: Carroll, Ricki S., Duker, Angela L., Schelhaas, Andrea J., Little, Mary Ellen, Miller, Elissa G., Bober, Michael B.

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Cartilage hair hypoplasia: characteristics and orthopaedic manifestations 著者: Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.

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Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw 著者: Ferriero, Kristen, Shah, Biraj, Yan, Yun, Khatri, Surya, Caccamese, John, Napoli, Joseph A., Bober, Michael B., Crane, Janet L.

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Expanding the Phenotype of SPONASTRIME Dysplasia to Include Short Dental Roots, Hypogammaglobulinemia, and Cataracts 著者: Gripp, Karen W., Johnson, Caitlyn, Scott, Charles I., Nicholson, Linda, Bober, Michael, Butler, Merlin G., Shaw, Linda, Gorlin, Robert J.

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NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUT... 著者: Fredette, Meghan E., Lombardi, Kristin C., Duker, Angela L., Buck, Catherine O., Phornphutkul, Chanika, Bober, Michael B., Quintos, Jose Bernardo

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Bone Aneurysmal Cysts and Pathologic Fracture Associated with Supernumerary Ring Chromosome 6 in Two Unrelated Patients 著者: Hurd, Lauren M., Thacker, Mihir, Okenfuss, Ericka, Duker, Angela L., Lou, Yang, Harty, Mary, Conard, Katrina, Lian, Jane B., Bober, Michael B.

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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease 著者: Duker, Angela L., Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M., Thompson, Louise, Parry, David A., Carroll, Ricki S., Bober, Michael B.

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Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period 著者: Carroll, Ricki S., Donenfeld, Perri, McGreal, Cristina, Franzone, Jeanne M., Kruse, Richard W., Preedy, Catherine, Costa, Joanna, Dirnberger, Daniel R., Bober, Michael B.

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Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels 著者: Dũng, Vu Chi, Tomatsu, Shunji, Montaño, Adriana M., Gottesman, Gary, Bober, Michael B., Mackenzie, William, Maeda, Miho, Mitchell, Grant A., Suzuki, Yasuyuki, Orii, Tadao

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Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5 著者: Pargas, Carlos, Franzone, Jeanne M., Rogers, Kenneth J., Artinian, Frank, Santana, Adolfredo, Shah, Suken A., McGreal, Cristina M., Kruse, Richard W., Bober, Michael B.

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Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations 著者: Tomatsu, Shunji, Sawamoto, Kazuki, Shimada, Tsutomu, Bober, Michael B., Kubaski, Francyne, Yasuda, Eriko, Mason, Robert W., Khan, Shaukat, Alméciga-Díaz, Carlos J., Barrera, Luis A., Mackenzie, William G., Orii, Tadao

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A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay 著者: Baratela, Wagner A.R., Bober, Michael B., Tiller, George E., Okenfuss, Ericka, Ditro, Colleen, Duker, Angela, Krakow, Deborah, Stabley, Deborah L., Sol-Church, Katia, Mackenzie, William, Lachman, Ralph, Scott, Charles I.

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Best practice guidelines for management of spinal disorders in skeletal dysplasia 著者: White, Klane K., Bober, Michael B., Cho, Tae-Joon, Goldberg, Michael J., Hoover-Fong, Julie, Irving, Melita, Kamps, Shawn E., Mackenzie, William G., Raggio, Cathleen, Spencer, Samantha A., Bompadre, Viviana, Savarirayan, Ravi

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A unique set of centrosome proteins requires Pericentrin for spindle-pole localization and spindle orientation 著者: Chen, Chun-Ting, Hehnly, Heidi, Yu, Qing, Farkas, Debby, Zheng, Guoqiang, Redick, Sambra D., Hung, Hui-Fang, Samtani, Rajeev, Jurczyk, Agata, Akbarian, Schahram, Wise, Carol, Jackson, Andrew, Bober, Michael, Guo, Yin, Lo, Cecilia, Doxsey, Stephen

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