Two sibs with unbalanced translocations in the Waardenburg gene region.

Autor al Gazali, L I, Quaife, R
Vydáno 1993

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

Autor al-Gazali, L I, Khalil, M, Devadas, K
Vydáno 1993

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Autor Revesz, T, Fletcher, S, al-Gazali, L I, DeBuse, P
Vydáno 1992

Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

Autor al-Gazali, L I, Donnai, D, Mueller, R F
Vydáno 1988

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
Vydáno 1995

Further delineation of Nevo syndrome.

Autor al-Gazali, L I, Bakalinova, D, Varady, E, Scorer, J, Nork, M
Vydáno 1997

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
Vydáno 1994

The oculocerebrocutaneous (Delleman) syndrome.

Autor al-Gazali, L I, Donnai, D, Berry, S A, Say, B, Mueller, R F
Vydáno 1988

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
Vydáno 1998

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
Vydáno 1996

The Schinzel-Giedion syndrome.

Autor al-Gazali, L I, Farndon, P, Burn, J, Flannery, D B, Davison, C, Mueller, R F
Vydáno 1990

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
Vydáno 1990

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
Vydáno 1997

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
Vydáno 1989

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.
Vydáno 2007

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. 
Vydáno 2007