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Results: 1-8 |
Results: 8
Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review
Authors: Rauen, KA Bitts, SM Li, L Golabi, M Cotter, PD
Citation: Ka. Rauen et al., Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review, CLIN GENET, 60(5), 2001, pp. 366-370
Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome
Authors: Rauen, KA Cotter, PD Bitts, SR Cox, VA Golabi, M
Citation: Ka. Rauen et al., Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: Identification of a candidate region for CFC syndrome, AM J MED G, 93(3), 2000, pp. 219-222
Oculouriculovertebral abnormalities in children of diabetic mothers
Authors: Ewart-Toland, A Yankowitz, J Winder, A Imagire, R Cox, VA Aylsworth, AS Golabi, M
Citation: A. Ewart-toland et al., Oculouriculovertebral abnormalities in children of diabetic mothers, AM J MED G, 90(4), 2000, pp. 303-309
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Authors: Enns, GM Bennett, MJ Hoppel, CL Goodman, SI Weisiger, K Ohnstad, C Golabi, M Packman, S
Citation: Gm. Enns et al., Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, J PEDIAT, 136(2), 2000, pp. 251-254
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
Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?
Authors: Enns, GM Roeder, E Chan, RT Catts, ZAK Cox, VA Golabi, M
Citation: Gm. Enns et al., Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?, AM J MED G, 86(3), 1999, pp. 237-241
Gastrointestinal tract anomalies in velocardiofacial syndrome
Authors: Enns, GM Cox, VA Golabi, M Immken, L Fisher, J Curry, C
Citation: Gm. Enns et al., Gastrointestinal tract anomalies in velocardiofacial syndrome, AM J MED G, 84(4), 1999, pp. 382-383
Severe congenital anomalies requiring transplantation in children with Kabuki syndrome
Authors: Ewart-Toland, A Enns, GM Cox, VA Mohan, GC Rosenthal, P Golabi, M
Citation: A. Ewart-toland et al., Severe congenital anomalies requiring transplantation in children with Kabuki syndrome, AM J MED G, 80(4), 1998, pp. 362-367
Risultati: 1-8 |