Výsledky vyhledávání - Al-Gazali, L. I. 

Two sibs with unbalanced translocations in the Waardenburg gene region. Autor al Gazali, L I, Quaife, R

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A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. Autor al-Gazali, L I, Khalil, M, Devadas, K

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Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? Autor Revesz, T, Fletcher, S, al-Gazali, L I, DeBuse, P

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Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? Autor al-Gazali, L I, Donnai, D, Mueller, R F

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The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. Autor al-Gazali, L I, Dawodu, A H, Sabarinathan, K, Varghese, M

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Further delineation of Nevo syndrome. Autor al-Gazali, L I, Bakalinova, D, Varady, E, Scorer, J, Nork, M

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Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. Autor Hone, J, Accili, D, al-Gazali, L I, Lestringant, G, Orban, T, Taylor, S I

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The oculocerebrocutaneous (Delleman) syndrome. Autor al-Gazali, L I, Donnai, D, Berry, S A, Say, B, Mueller, R F

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Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. Autor Bonthron, D T, Dunlop, N, Barr, D G, El Sanousi, A A, Al-Gazali, L I

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Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. Autor Al-Gazali, L I, Varghese, M, Varady, E, Al Talabani, J, Scorer, J, Bakalinova, D

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The Schinzel-Giedion syndrome. Autor al-Gazali, L I, Farndon, P, Burn, J, Flannery, D B, Davison, C, Mueller, R F

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Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. Autor al-Gazali, L I, Mueller, R F, Caine, A, Antoniou, A, McCartney, A, Fitchett, M, Dennis, N R

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Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. Autor Brown, K A, al-Gazali, L I, Moynihan, L M, Lench, N J, Markham, A F, Mueller, R F

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Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis. Autor al-Gazali, L I, Arthur, R J, Lamb, J T, Hammer, H M, Coker, T P, Hirschmann, P N, Gibbs, J, Mueller, R F

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Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes Autor Dagoneau, N., Bellais, S., Blanchet, P., Sarda, P., Al-Gazali, L. I., Di Rocco, M., Huber, C., Djouadi, F., Le Goff, C., Munnich, A., Cormier-Daire, V.

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development Autor Simpson, M. A. , Hsu, R. , Keir, L. S. , Hao, J. , Sivapalan, G. , Ernst, L. M. , Zackai, E. H. , Al-Gazali, L. I. , Hulskamp, G. , Kingston, H. M. , Prescott, T. E. , Ion, A. , Patton, M. A. , Murday, V. , George, A. , Crosby, A. H. 

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