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:
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:
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:
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
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:
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