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Steinberg, S. J, Snowden, A, Braverman, N. E, Chen, L, Watkins, P. A, Clayton, P. T, Setchell, K. D. R, Heubi, J. E, Raymond, G. V, Moser, A. B, Moser, H. W
Published in Journal of inherited metabolic disease (01.02.2009)
Published in Journal of inherited metabolic disease (01.02.2009)
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The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia
Al‐Hassnan, Z. N., Boyadjiev, S. A., Praphanphoj, V., Hamosh, A., Braverman, N. E., Thomas, G. H., Geraghty, M. T.
Published in Journal of inherited metabolic disease (01.07.2003)
Published in Journal of inherited metabolic disease (01.07.2003)
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A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24
de Mollerat, Xavier J., Gurrieri, Fiorella, Morgan, Chad T., Sangiorgi, Eugenio, Everman, David B., Gaspari, Paola, Amiel, Jeanne, Bamshad, Michael J., Lyle, Robert, Blouin, Jean-Louis, Allanson, Judith E., Le Marec, Bernard, Wilson, Melba, Braverman, Nancy E., Radhakrishna, Uppala, Delozier-Blanchet, Celia, Abbott, Albert, Elghouzzi, Vincent, Antonarakis, Stylianos, Stevenson, Roger E., Munnich, Arnold, Neri, Giovanni, Schwartz, Charles E.
Published in Human molecular genetics (15.08.2003)
Published in Human molecular genetics (15.08.2003)
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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Characteristic MR imaging changes in severe hypermethioninemic states
Braverman, Nancy E, Mudd, S Harvey, Barker, Peter B, Pomper, Martin G
Published in American journal of neuroradiology : AJNR (01.11.2005)
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Published in American journal of neuroradiology : AJNR (01.11.2005)
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Cervical stenosis secondary to rhizomelic chondrodysplasia punctata
Khanna, A J, Braverman, N E, Valle, D, Sponseller, P D
Published in American journal of medical genetics (15.02.2001)
Published in American journal of medical genetics (15.02.2001)
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CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase
Grange, D K, Kratz, L E, Braverman, N E, Kelley, R I
Published in American journal of medical genetics (14.02.2000)
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Published in American journal of medical genetics (14.02.2000)
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