The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David
Published in JIMD reports (01.05.2023)
Published in JIMD reports (01.05.2023)
Get full text
Journal Article
Point mutations regarded as missense mutations cause splicing defects in the factor XI gene
ZUCKER, M., ROSENBERG, N., PERETZ, H., GREEN, D., BAUDUER, F., ZIVELIN, A., SELIGSOHN, U.
Published in Journal of thrombosis and haemostasis (01.10.2011)
Published in Journal of thrombosis and haemostasis (01.10.2011)
Get full text
Journal Article
A common ancestral mutation (C128X) occurring in 11 non‐Jewish families from the UK with factor XI deficiency
Bolton‐Maggs, P. H. B., Peretz, H., Butler, R., Mountford, R., Keeney, S., Zacharski, L., Zivelin, A., Seligsohn, U.
Published in Journal of thrombosis and haemostasis (01.06.2004)
Published in Journal of thrombosis and haemostasis (01.06.2004)
Get full text
Journal Article
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening
Peretz, Ryan H., Ah Mew, Nicholas, Vernon, Hilary J., Ganetzky, Rebecca D.
Published in Molecular genetics and metabolism (01.09.2021)
Published in Molecular genetics and metabolism (01.09.2021)
Get full text
Journal Article
Aragonite crystalline matrix as an instructive microenvironment for neural development
Peretz, H., Blinder, P., Baranes, D., Vago, R.
Published in Journal of tissue engineering and regenerative medicine (01.12.2008)
Published in Journal of tissue engineering and regenerative medicine (01.12.2008)
Get full text
Journal Article
Time dependent protection of amifostine from renal and hematopoietic cisplatin induced toxicity
Asna, N., Lewy, H., Ashkenazi, I.E., Deutsch, V., Peretz, H., Inbar, M., Ron, I.G.
Published in Life sciences (1973) (04.03.2005)
Published in Life sciences (1973) (04.03.2005)
Get full text
Journal Article
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients
NELSON, E. J. R., NAIR, S. C., PERETZ, H., COLLER, B. S., SELIGSOHN, U., CHANDY, M., SRIVASTAVA, A.
Published in Journal of thrombosis and haemostasis (01.08.2006)
Published in Journal of thrombosis and haemostasis (01.08.2006)
Get full text
Journal Article
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome
Peretz, Ryan H., Zein, Wadih M., Hufnagel, Robert B., Ku, Christine, Godfrey, Rena, Wolfe, Lynne, Adams, David, Gahl, William, Toro, Camilo
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
Get full text
Journal Article
Triggered C-reactive protein (CRP) concentrations and the CRP gene −717A>G polymorphism in acute stroke or transient ischemic attack
Ben-Assayag, E., Shenhar-Tsarfaty, S., Bova, I., Berliner, S., Shopin, L., Peretz, H., Usher, S., Shapira, I., Bornstein, N. M.
Published in European journal of neurology (01.03.2007)
Published in European journal of neurology (01.03.2007)
Get full text
Journal Article
Explaining the Performance of Mature Municipal Solid Waste Recycling Programs
Peretz, Jean H, Tonn, Bruce E, Folz, David H
Published in Journal of environmental planning and management (01.09.2005)
Published in Journal of environmental planning and management (01.09.2005)
Get full text
Journal Article
The human platelet αIIb gene is not closely linked to its integrin partner β3
THORNTON, M. A, PONCZ, M, KOROSTISHEVSKY, M, YAKOBSON, E, USHER, S, SELIGSOHN, U, PERETZ, H
Published in Blood (15.09.1999)
Published in Blood (15.09.1999)
Get full text
Journal Article
Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population
Loo, J C Y, Paterson, A D, Hao, A, Shennan, M, Peretz, H, Sidi, Y, Hogg, D, Yakobson, E
Published in Journal of medical genetics (01.05.2005)
Published in Journal of medical genetics (01.05.2005)
Get full text
Journal Article
An assessment of waste issues associated with the production of new, lightweight, fuel-efficient vehicles
Tonn, B.E., Schexnayder, S.M., Peretz, J.H., Das, S., Waidley, G.
Published in Journal of cleaner production (01.11.2003)
Published in Journal of cleaner production (01.11.2003)
Get full text
Journal Article
Evaluating knowledge benefits of automotive lightweighting materials R&D projects
Peretz, Jean H., Das, Sujit, Tonn, Bruce E.
Published in Evaluation and program planning (01.08.2009)
Published in Evaluation and program planning (01.08.2009)
Get full text
Journal Article