Results: 1-25 | 26-50 | 51-59
Results: 1-25/59

Authors: Meiner, V Shpitzen, S Mandel, H Klar, A Ben-Neriah, Z Zlotogora, J Sagi, M Lossos, A Bargal, R Sury, V Carmi, R Leitersdorf, E Zeigler, M
Citation: V. Meiner et al., Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C, GENET MED, 3(5), 2001, pp. 343-348

Authors: Neumann, S Topper, A Mandel, H Shapira, I Golan, O Gazit, E Loewenthal, R
Citation: S. Neumann et al., Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy, GENET TEST, 5(1), 2001, pp. 65-68

Authors: Mandel, H Szargel, R Labay, V Elpeleg, O Saada, A Shalata, A Anbinder, Y Berkowitz, D Hartman, C Barak, M Eriksson, S Cohen, N
Citation: H. Mandel et al., The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (vol 29, pg 337, 2001), NAT GENET, 29(4), 2001, pp. 491-491

Authors: Mandel, H Szargel, R Labay, V Elpeleg, O Saada, A Shalata, A Anbinder, Y Berkowitz, D Hartman, C Barak, M Eriksson, S Cohen, N
Citation: H. Mandel et al., The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA, NAT GENET, 29(3), 2001, pp. 337-341

Authors: Saada, A Shaag, A Mandel, H Nevo, Y Eriksson, S Elpeleg, O
Citation: A. Saada et al., Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy, NAT GENET, 29(3), 2001, pp. 342-344

Authors: Loeffen, J Elpeleg, O Smeitink, J Smeets, R Stockler-Ipsiroglu, S Mandel, H Sengers, R Trijbels, F van den Heuvel, L
Citation: J. Loeffen et al., Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy, ANN NEUROL, 49(2), 2001, pp. 195-201

Authors: Mandel, H Hartman, C Berkowitz, D Elpeleg, ON Manov, I Iancu, TC
Citation: H. Mandel et al., The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies, HEPATOLOGY, 34(4), 2001, pp. 776-784

Authors: Shapiro, R Weismann, I Mandel, H Eisenstein, B Ben-Ari, Z Bar-Nathan, N Zehavi, I Dinari, G Mor, E
Citation: R. Shapiro et al., Primary hyperoxaluria type 1: Improved outcome with timely liver transplantation: A single-center report of 36 children, TRANSPLANT, 72(3), 2001, pp. 428-432

Authors: Wynn, RM Chuang, JL Sansaricq, C Mandel, H Chuang, DT
Citation: Rm. Wynn et al., Biochemical basis of type IB (E1 beta) mutations in maple syrup urine disease - A prevalent allele in patients from the Druze kindred in Israel, J BIOL CHEM, 276(39), 2001, pp. 36550-36556

Authors: Mandel, H
Citation: H. Mandel, Mark Elf's own record label, DOWN BEAT, 68(7), 2001, pp. 16-16

Authors: Mandel, H
Citation: H. Mandel, Randy Weston's 75th birthday celebration at the Jazz Gallery, New York City, DOWN BEAT, 68(7), 2001, pp. 16-16

Authors: Mandel, H
Citation: H. Mandel, Profoundly real: Bob Belden's original music drama 'Black Dahlia', DOWN BEAT, 68(4), 2001, pp. 48-51

Authors: Mandel, H
Citation: H. Mandel, Southern accents: Richard Leo Johnson - Divine moment, DOWN BEAT, 68(2), 2001, pp. 48-48

Authors: Mandel, H
Citation: H. Mandel, The independent Jazz Vision Festival, New York City, DOWN BEAT, 68(10), 2001, pp. 16-16

Authors: Mandel, H
Citation: H. Mandel, Don Wherry - Obituary, DOWN BEAT, 68(10), 2001, pp. 23-23

Authors: Mandel, H
Citation: H. Mandel, Unifying factor: Dave Holland's musical generosity brings excellence into any ensemble, DOWN BEAT, 68(10), 2001, pp. 24

Authors: Thulllier, G Herse, M Simon, PC Labs, D Mandel, H Gillotay, D Petermans, W
Citation: G. Thulllier et al., The absolute solar spectral irradiance from 200 to 2500 nm as measured by the SOLSPEC spectrometer with the ATLAS and EURECA missions, PHYS CH P C, 25(5-6), 2000, pp. 375-377

Authors: Kapelushnik, J Mandel, H Varadi, G Nagler, A
Citation: J. Kapelushnik et al., Fludarabine-based protocol for haploidentical peripheral blood stem cell transplantation in Hurler syndrome, J PED H ONC, 22(5), 2000, pp. 433-436

Authors: Raz, T Labay, V Baron, D Szargel, R Anbinder, Y Barrett, T Rabl, W Viana, MB Mandel, H Baruchel, A Cayuela, JM Cohen, N
Citation: T. Raz et al., The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families, HUM MUTAT, 16(1), 2000, pp. 37-42

Authors: Mandel, H
Citation: H. Mandel, A brief perspective on personalized health care, FAM PRACT, 17(3), 2000, pp. XV-XVI

Authors: Mandel, H Abeling, N Gutman, A Berant, M Scholten, EG Sheiman, C Luder, A van Gennip, AH
Citation: H. Mandel et al., Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis, PRENAT DIAG, 20(11), 2000, pp. 927-929

Authors: Shalata, A Mandel, H Dorche, C Zabot, MT Shalev, S Hugeirat, Y Arieh, D Ronit, Z Reiss, J Anbinder, Y Cohen, N
Citation: A. Shalata et al., Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers, PRENAT DIAG, 20(1), 2000, pp. 7-11

Authors: Knopf, C Rod, R Jaeken, J Berant, M Van Schaftingen, E Fryns, JP Brill-Zamir, R Gershoni-Baruch, R Lischinsky, S Mandel, H
Citation: C. Knopf et al., Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism, J INH MET D, 23(4), 2000, pp. 399-403

Authors: Korman, SH Mandel, H Gutman, A
Citation: Sh. Korman et al., Characteristic urine organic acid profile in peroxisomal biogenesis disorders, J INH MET D, 23(4), 2000, pp. 425-428

Authors: Raas-Rothschild, A Cormier-Daire, V Bao, M Genin, E Salomon, R Brewer, K Zeigler, M Mandel, H Toth, S Roe, B Munnich, A Canfield, WM
Citation: A. Raas-rothschild et al., Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC), J CLIN INV, 105(5), 2000, pp. 673-681
Risultati: 1-25 | 26-50 | 51-59