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Results:
1-11
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Results: 11
Authors:
Mykytyn, K
Braun, T
Carmi, R
Haider, NB
Searby, CC
Shastri, M
Beck, G
Wright, AF
Iannaccone, A
Elbedour, K
Riise, R
Baldi, A
Raas-Rothschild, A
Gorman, SW
Duhl, DM
Jacobson, SG
Casavant, T
Stone, EM
Sheffield, VC
Citation: K. Mykytyn et al., Identification of the gene that, when mutated, causes the human obesity syndrome BBS4, NAT GENET, 28(2), 2001, pp. 188-191
Authors:
Bargal, R
Avidan, N
Olender, T
Ben Asher, E
Zeigler, M
Raas-Rothschild, A
Frumkin, A
Ben-Yoseph, O
Friedlender, Y
Lancet, D
Bach, G
Citation: R. Bargal et al., Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population, HUM MUTAT, 17(5), 2001, pp. 397-402
Authors:
Nir, A
Ekstein, S
Nadjari, M
Raas-Rothschild, A
Rein, AJJT
Citation: A. Nir et al., Rhabdomyoma in the fetus: Illustration of tumor growth during the second half of gestation, PEDIAT CARD, 22(6), 2001, pp. 515-518
Authors:
Bargal, R
Avidan, N
Ben-Asher, E
Olender, Z
Zeigler, M
Frumkin, A
Raas-Rothschild, A
Glusman, G
Lancet, D
Bach, G
Citation: R. Bargal et al., Identification of the gene causing mucolipidosis type IV, NAT GENET, 26(1), 2000, pp. 118-121
Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III
Authors:
Nadjari, M
Fasouliotis, SJ
Ariel, I
Raas-Rothschild, A
Bar-Ziv, J
Elchalal, U
Citation: M. Nadjari et al., Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III, PRENAT DIAG, 20(8), 2000, pp. 666-669
Authors:
Lerer, I
Sagi, M
Malamud, E
Levi, H
Raas-Rothschild, A
Abeliovich, D
Citation: I. Lerer et al., Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT, AM J MED G, 95(1), 2000, pp. 53-56
Authors:
Raas-Rothschild, A
Nir, A
Gillis, R
Rein, AJJT
Citation: A. Raas-rothschild et al., Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphe,and hemangiomatosis: Report and review, AM J MED G, 90(3), 2000, pp. 243-245
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
Authors:
Morle, L
Bozon, M
Zech, JC
Alloisio, N
Raas-Rothschild, A
Philippe, C
Lambert, JC
Godet, J
Plauchu, H
Edery, P
Citation: L. Morle et al., A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15, AM J HU GEN, 67(6), 2000, pp. 1592-1597
Authors:
Raas-Rothschild, A
Bargal, R
DellaPergola, S
Zeigler, M
Bach, G
Citation: A. Raas-rothschild et al., Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population, EUR J HUM G, 7(4), 1999, pp. 496-498
Authors:
Raas-Rothschild, A
Nir, A
Ergaz, Z
Bar Ziv, J
Rein, AJJT
Citation: A. Raas-rothschild et al., Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities, AM J MED G, 84(4), 1999, pp. 361-364
Risultati:
1-11
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