An analysis of PAX1 in the development of vertebral malformations von Giampietro, PF, Raggio, CL, Reynolds, CE, Shukla, SK, McPherson, E, Ghebranious, N, Jacobsen, FS, Kumar, V, Faciszewski, T, Pauli, RM, Rasmussen, K, Burmester, JK, Zaleski, C, Merchant, S, David, D, Weber, JL, Glurich, I, Blank, RD

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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia von Hul, Els Van, Warman, Matthew L, Al-Alami, Jamil, Roudier, Jean, Bahabri, Sultan A, Hurvitz, Jennifer R, Pauli, Richard M, El-Shanti, Hatem, Rezai-Delui, Hossien, Van Hul, Wim, Suwairi, Wafaa M, Legius, Eric, Holderbaum, Daniel, Herd, J. Kenneth, Superti-Furga, Andrea, Le Merrer, Martine

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A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST von Panzer, K.M., Lachman, R., Modaff, P., Pauli, R.M.

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Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15 von Martínez Murillo, F, Kobayashi, H, Pegoraro, E, Galluzzi, G, Creel, G, Mariani, C, Farina, E, Ricci, E, Alfonso, G, Pauli, R M, Hoffman, E P

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Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux von Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.

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Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance von Lo Ten Foe, J.R., Kwee, M.L. <b, Rooimans, M.A., Oostra, A.B., Veerman, A.J.R., van Weel, M., Pauli, R.M., Shahidi, N.T., Dokal, I., Roberts, I., Altay, C., Gluckman, E., Gibson, R.A., Mathew, C.G, Arwert, F., Joenje, H.

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Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes von Rice, G.M., Qi, Z., Selzer, R., Richmond, T., Thompson, K., Pauli, R.M., Yu, J.

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Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling von Pryde, Peter G., Zelop, C., Pauli, R.M.

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Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene von Melkoniemi, Miia, Brunner, Han G., Manouvrier, Sylvie, Hennekam, Raoul, Superti-Furga, Andrea, Kääriäinen, Helena, Pauli, Richard M., van Essen, Ton, Warman, Matthew L., Bonaventure, Jacky, Miny, Peter, Ala-Kokko, Leena

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Prevention of Fixed, Angular Kyphosis in Achondroplasia von Pauli, Richard M, Breed, Alan, Horton, V Kim, Glinski, Lisa P, Reiser, Catherine A

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Genetic heterogeneity in families with hereditary multiple exostoses von COOK, A, RASKIND, W, WIJSMAN, E, HECHT, J. T, WELLS, D, WAGNER, M. J, BLANTON, S. H, PAULI, R. M, GREGG, R. G, FRANCOMANO, C. A, PUFFENBERGER, E, CONRAD, U, SCHMALE, G, SCHELLENBERG, G

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Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia von PAULI, R. M, HORTON, V. K, GLINSKI, L. P, REISER, C. A

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Obstructive sleep apnea in children with achondroplasia: Surgical and anesthetic considerations von SISK, ELIZABETH A., HEATLEY, DIANE G., BOROWSKI, BRET J., LEVERSON, GLEN E., PAULI, RICHARD M.

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Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen von Rosenberg, Marjorie J., Vaske, David, Killoran, Christina E., Ning, Yi, Wargowski, David, Hudgins, Louanne, Tifft, Cynthia J., Meck, Jeanne, Blancato, Jan K., Rosenbaum, Kenneth, Pauli, Richard M., Weber, James, Biesecker, Leslie G.

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Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the Warfarin embryopathy: clues to the mechanism of teratogenicity of... von PAULI, R. M, LIAN, J. B, MOSHER, D. F, SUTTIE, J. W

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Fine mapping of the nail-patella syndrome locus at 9q34 von MCINTOSH, I, CLOUGH, M. V, KWIATKOWSKI, D. J, PYERITZ, R. E, BROWN, L. J, PAULI, R. M, MCCORMICK, M. K, FRANCOMANO, C. A, SCHÄFFER, A. A, PUFFENBERGER, E. G, HORTON, V. K, PETERS, K, ABBOTT, M. H, ROIG, C. M, CUTONE, S, OZELIUS, L

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Jugular bulb dehiscence in achondroplasia von Pauli, Richard M, Modaff, Peggy

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Long-term survival in typical thanatophoric dysplasia type 1 von Baker, Kristin M., Olson, David S., Harding, Cary O., Pauli, Richard M.

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Surgical intervention in achondroplasia von Pauli, R M

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ERRORS IN THE PRENATAL DIAGNOSIS OF CHILDREN WITH ACHONDROPLASIA von MODAFF, PEGGY, HORTON, V. KIM, PAULI, RICHARD M.

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