Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene von Orrico, A., Galli, L., Faivre, L., Clayton-Smith, J., Azzarello-Burri, S.M., Hertz, J.M., Jacquemont, S., Taurisano, R., Arroyo Carrera, I., Tarantino, E., Devriendt, K., Melis, D., Thelle, T., Meinhardt, U., Sorrentino, V.

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Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies von Rasmussen, M., Sunde, L., Nielsen, M.L., Ramsing, M., Petersen, A., Hjortshøj, T.D., Olsen, T.E., Tabor, A., Hertz, J.M., Johnsen, I., Sperling, L., Petersen, O.B., Jensen, U.B., Møller, F.G., Petersen, M.B., Lildballe, D.L.

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Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cy... von ZHOU, J, HERTZ, JM, LEINONEN, A, TRYGGVASON, K

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The Danish HD Registry—a nationwide family registry of HD families in Denmark von Gilling, M., Budtz‐Jørgensen, E., Boonen, S.E., Lildballe, D., Bojesen, A., Hertz, J.M., Sørensen, S.A.

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A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87... von Covaciu, C., Grosso, F., Pisaneschi, E., Zambruno, G., Gregersen, P.A., Sommerlund, M., Hertz, J.M., Castiglia, D.

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A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87... von Covaciu, C., Grosso, F., Pisaneschi, E., Zambruno, G., Gregersen, P.A., Sommerlund, M., Hertz, J.M., Castiglia, D.

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Effects of acute and chronic cocaine on milk intake, body weight, and activity in bottle and cannula-fed rats von Wolgin, D L, Hertz, J M

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N.P.2 05 A previously unreported non-sense mutation in SMN1 causes spinal muscular atrophy von Arkblad, E.L., Berg, K., Jacobsen, S.V., Hertz, J.M., Nordling, M.

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Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene von Orrico, A, Galli, L, Faivre, L, Clayton-Smith, J, Azzarello-Burri, S.M, Hertz, J.M, Jacquemont, S, Taurisano, R, Arroyo Carrera, I, Tarantino, E, Devriendt, Koenraad, Melis, D, Thelle, T, Meinhardt, U, Sorrentino, V

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Biallelic variants in GLE1 with survival beyond neonatal period von Yates, T.M, Campeau, P.M, Ghoumid, J, Kibaek, M, Larsen, M.J, Smol, T, Albaba, S, Hertz, J.M, Balasubramanian, M

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder von Rots, D., Jakub, T.E., Keung, C., Banka, S., Pfundt, R., Vries, B.B.A. de, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Andersen, C.B., Kibaek, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L.Y., Gijavanekar, C., Dios, K. de, Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Garcia, M.S.L., Perrier, R., Almeida, P.M., Simoes, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Bosch, D.S.D.L.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Benedicte, D., Lopergolo, D., Haack, T.B., Bertrand, M., Falb, R.J., Riess, A., Krieg, P., Spranger, S., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Coursimault, J., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. di, Louie, R.J., Stolerman, E., Brunner, H.G., Kleefstra, T.

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Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (IUPAC Technical Report) von Petersen, U.M., Padro-Miquel, A., Taylor, G., Hertz, J.M., Ceder, R., Fuentes-Arderiu, X., Dunnen, J.T. den

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Interstitial deletion of the short arm of chromosome 3: fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11→p14.2) von HERTZ, J. M, COERDT, W, HAHNAMANN, N, SCHWARTZ, M

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OPTN/SRTR 2011 Annual Data Report: Lung von Valapour, M., Paulson, K., Smith, J. M., Hertz, M. I., Skeans, M. A., Heubner, B. M., Edwards, L. B., Snyder, J. J., Israni, A. K., Kasiske, B. L.

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OPTN/SRTR 2012 Annual Data Report: Lung von Valapour, M., Skeans, M. A., Heubner, B. M., Smith, J. M., Schnitzler, M. A., Hertz, M. I., Edwards, L. B., Snyder, J. J., Israni, A. K., Kasiske, B. L.

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OPTN/SRTR 2013 Annual Data Report: Lung von Valapour, M., Skeans, M. A., Heubner, B. M., Smith, J. M., Hertz, M. I., Edwards, L. B., Cherikh, W. S., Callahan, E. R., Snyder, J. J., Israni, A. K., Kasiske, B. L.

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Effect of Preoperative Pulmonary Artery Pressure on Early Survival After Lung Transplantation for Idiopathic Pulmonary Fibrosis von Whelan, T.P.M., Dunitz, J.M., Kelly, R.F., Edwards, L.B., Herrington, C.S., Hertz, M.I., Dahlberg, P.S.

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Hydrogen technology for supply chain sustainability: The Mexican transportation impacts on society von Elvira, Kaneberg, Marisol, Rico, Susanne, Hertz, Leif-Magnus, Jensen, Sandoval-Pineda, J.M., de G, Gonzalez-Huerta R.

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Post-transplant lymphoproliferative disorders in lung transplant recipients: 20-yr experience at the University of Minnesota von Wudhikarn, Kitsada, Holman, C.J., Linan, M., Blaes, A.H., Dunitz, J.M., Hertz, M.E., Peterson, B.A.

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Development of a Chemical Genetic Approach for Human Aurora B Kinase Identifies Novel Substrates of the Chromosomal Passenger Complex von Hengeveld, Rutger C.C., Hertz, Nicholas T., Vromans, Martijn J.M., Zhang, Chao, Burlingame, Alma L., Shokat, Kevan M., Lens, Susanne M.A.

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