Blastogenetic associations: General considerations von Lubinsky, Mark

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Linkage of a Human Brain Malformation, Familial Holoprosencephaly, to Chromosome 7 and Evidence for Genetic Heterogeneity von Muenke, Maximilian, Gurrieri, Fiorella, Bay, Carolyn, Yi, David H., Collins, Amanda L., Johnson, Virginia P., Raoul C. M. Hennekam, Schaefer, G. Bradley, Weik, LuAnn, Lubinsky, Mark S., Daack-Hirsch, Sandy, Moore, Cynthia A., Dobyns, William B., Murray, Jeffrey C., Price, R. Arlen

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Remarks on high energy evolution von Kovner, Alex, Lublinsky, Michael

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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita von Zhang, Yao-Hua, Huang, Bing-Ling, Anyane-Yeboa, Kwame, Carvalho, Julienne A.R., Clemons, Robert D., Cole, Trevor, De Figueiredo, Bonald C., Lubinsky, Mark, Metzger, Daniel L., Quadrelli, Roberto, Repaske, David R., Reyno, Soraya, Seaver, Laurie H., Vaglio, Alicia, Van Vliet, Guy, McCabe, Linda L., McCabe, Edward R.B., Phelan, James K.

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A Further Report on a Case of Floating-Harbor Syndrome in a Mother and Daughter von Rosen, Allyson C., Newby, R.F., Sauer, C.M., Lacey, T., Hammeke, T.A., Lubinsky, M.S.

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Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations von Lubinsky, Mark S.

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Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij von Wu, Xiaohua, Rush, Jeffrey S., Karaoglu, Denise, Krasnewich, Donna, Lubinsky, Mark S., Waechter, Charles J., Gilmore, Reid, Freeze, Hudson H.

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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy von ROA, B. B, GREENBERG, F, GUNARATNE, P, SAUER, C. M, LUBINSKY, M. S, KOZMA, C, MECK, J. M, MAGENIS, R. E, SHAFFER, L. G, LUPSKI, J. R

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Urticaria pigmentosa and Nager syndrome von Nakata, Marie L., Lubinsky, Mark S., Esterly, Nancy B.

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Classifying sex biased congenital anomalies von Lubinsky, Mark S.

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Atypical fetal hydantoin syndrome von Lubinsky, M S

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Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type von Stevenson, R E, Lubinsky, M, Taylor, H A, Wenger, D A, Schroer, R J, Olmstead, P M

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Bearing bad news: Dealing with the mimics of denial von Lubinsky, Mark S.

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Genomic imprinting, monozygous twinning, and X inactivation von Lubinsky, MarkS, Hall, JudithG

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The syndrome as finding or as cause: Suggested terminology von Lubinsky, Mark S., Opitz, John M., Reynolds, James F.

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Female pseudohermaphroditism and associated anomalies von Lubinsky, Mark S., Opitz, John M.

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Explaining certain human limb anomalies and the limb-hematopoiesis community of syndromes using a model of determination von Lubinsky, Mark S.

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Associations in clinical genetics with a comment on the paper by Evans et al on tracheal agenesis von Lubinsky, Mark, Opitz, John M., Reynolds, James F.

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Cat-eye syndrome with different marker chromosomes in a mother and daughter von Ing, Paul S., Lubinsky, Mark S., Smith, Shelley D., Golden, Ellen, Sanger, Warren G., Duncan, Alessandra M. V., Opitz, John M., Reynolds, James F.

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Behavioral consequences of congenital rubella von Lubinsky, Mark

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