Resultats de la cerca - Bober, Michael

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

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

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

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Growth in individuals with Saul–Wilson syndrome per 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 per 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 per 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 per 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 per 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 per 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 per 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... per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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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