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Results: 1-9 |
Results: 9
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria
Authors: Scaglia, F Sutton, VR Bodamer, OAF Vogel, H Shapira, SK Naviaux, RK Vladutiu, GD
Citation: F. Scaglia et al., Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria, J CHILD NEU, 16(2), 2001, pp. 136-138
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome
Authors: Heilstedt, HA Burgess, DL Anderson, AE Chedrawi, A Tharp, B Lee, O Kashork, CD Starkey, DE Wu, YQ Noebels, JL Shaffer, LG Shapira, SK
Citation: Ha. Heilstedt et al., Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome, EPILEPSIA, 42(9), 2001, pp. 1103-1111
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermaldysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
Authors: Zonana, J Elder, ME Schneider, LC Orlow, SJ Moss, C Golabi, M Shapira, SK Farndon, PA Wara, DW Emmal, SA Ferguson, BM
Citation: J. Zonana et al., A novel X-linked disorder of immune deficiency and hypohidrotic ectodermaldysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO), AM J HU GEN, 67(6), 2000, pp. 1555-1562
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
Authors: Wu, YQ Heilstedt, HA Bedell, JA May, KM Starkey, DE McPherson, JD Shapira, SK Shaffer, LG
Citation: Yq. Wu et al., Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions, HUM MOL GEN, 8(2), 1999, pp. 313-321
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome
Authors: Abou-Zahr, F Bejjani, B Kruyt, FAE Kurg, R Bacino, C Shapira, SK Youssoufian, H
Citation: F. Abou-zahr et al., Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome, AM J MED G, 83(5), 1999, pp. 388-391
Monosomy 1p36
Authors: Slavotinek, A Shaffer, LG Shapira, SK
Citation: A. Slavotinek et al., Monosomy 1p36, J MED GENET, 36(9), 1999, pp. 657-663
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis
Authors: Heilstedt, HA Shapira, SK Gregg, AR Shaffer, LG
Citation: Ha. Heilstedt et al., Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis, CLIN GENET, 56(2), 1999, pp. 123-128
DNA rearrangements on both homologues of chromosome 17 in a mildly delayedindividual with a family history of autosomal dominant carpal tunnel syndrome
Authors: Potocki, L Chen, KS Koeuth, T Killian, J Iannaccone, ST Shapira, SK Kashork, CD Spikes, AS Shaffer, LG Lupski, JR
Citation: L. Potocki et al., DNA rearrangements on both homologues of chromosome 17 in a mildly delayedindividual with a family history of autosomal dominant carpal tunnel syndrome, AM J HU GEN, 64(2), 1999, pp. 471-478
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families
Authors: Goodman, BK Shaffer, LG Rutberg, J Leppert, M Harum, K Gagos, S Ray, JH Bialer, MG Zhou, XT Pletcher, BA Shapira, SK Geraghty, MT
Citation: Bk. Goodman et al., Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families, AM J MED G, 80(4), 1998, pp. 377-384
Risultati: 1-9 |