检索结果 - Slavotinek, A

Chromosome abnormalities and genetic counseling, 3rd edn 由 Slavotinek, A.

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Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions. 由 Slavotinek, A, Kingston, H

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Results of surgical treatment of chronic pancreatitis. Report of 142 cases. 由 White, T T, Slavotinek, A H

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes 由 Slavotinek, A, Tifft, C

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Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby 由 SLAVOTINEK, A., KINGSTON, H.

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Monosomy 1p36 由 Slavotinek, A., Shaffer, L., Shapira, S.

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Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. 由 Slavotinek, A, Gaunt, L, Donnai, D

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Interstitial deletion of band 3q25. 由 Slavotinek, A M, Huson, S M, Fitchett, M

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The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. 由 Slavotinek, A, Maher, E, Gregory, P, Rowlandson, P, Huson, S M

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A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans 由 Krall, M, Htun, S, Anand, D, Hart, D, Lachke, SA, Slavotinek, A

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Partial tetrasomy 21 in a male infant 由 SLAVOTINEK, A., CHEN, X., JACKSON, A., GAUNT, L., CAMPBELL, A., CLAYTON-SMITH, J., KORENBERG, J.

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Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1 由 Slavotinek, A, Lee, S, Davis, R, Shrit, A, Leppig, K, Rhim, J, Jasnosz, K, Albertson, D, Pinkel, D

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Of Brain and Bone: The Unusual Case of Dr. A 由 Narvid, J, Gorno-Tempini, ML, Slavotinek, A, DeArmond, SJ, Cha, YH, Miller, BL, Rankin, K.P

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Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome 由 Lee, J, Tartaglia, M, Gelb, B, Fridrich, K, Sachs, S, Stratakis, C, Muenke, M, Robey, P, Collins, M, Slavotinek, A

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Gastric surgery for morbid obesity. The Adelaide Study. 由 Hall, J C, Watts, J M, O'Brien, P E, Dunstan, R E, Walsh, J F, Slavotinek, A H, Elmslie, R G

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Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres 由 Slavotinek, A, Rosenberg, M, Knight, S, Gaunt, L, Fergusson, W, Killoran, C, Clayton-Smith, J, Kingston, H, Campbell, R, Flint, J, Donnai, D, Biesecker, L

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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia 由 Ullah, E., Wu, Di, Madireddy, L., Lao, R., Ling-Fung Tang, P., Wan, E., Bardakjian, T., Kopinsky, S., Kwok, P-Y., Schneider, A., Baranzini, S., Ansar, M., Slavotinek, A.

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