Zobrazeno 1 - 10 of 128 pro vyhledávání: '"Der Kaloustian, V M"'
2
Akademický článek
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
Autor: Di Donato, N, Rump, A, Koenig, R, Der Kaloustian, V M, Halal, F, Sonntag, K, Krause, C, Hackmann, K, Hahn, G, Schrock, E, Verloes, A
Publikováno v: European Journal of Human Genetics; Feb2014, Vol. 22 Issue 2, p179-183, 5p
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4
Akademický článek
Prenatal tests for Sanfilippo disease type B in four pregnancies.
Autor: Mossman, Jean, Young, Elisabeth P., Patrick, A. D., Fensom, A. H., Ellis, Marie, Benson, P. P., Der Kaloustian, V. M.
Publikováno v: Prenatal Diagnosis; Oct1983, Vol. 3 Issue 4, p347-350, 4p
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6
Akademický článek
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans.
Autor: Treacy, E, Polychronakos, C, Vekemans, M, Eydoux, P, Blaichman, S, Scarpelli, H, Ross, M, Xu, Y, Der Kaloustian, V M
Publikováno v: Journal of Medical Genetics; Jan1996, Vol. 33 Issue 1, p42-46, 5p, 1 Color Photograph, 3 Black and White Photographs, 1 Diagram
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7
Akademický článek
Psychosocial and economic profile of a sample of families with thalassaemic children in Lebanon.
Autor: Der Kaloustian, V M, Khudr, A, Firzli, S, Dabbous, I
Publikováno v: Journal of Medical Genetics; Dec1987, Vol. 24 Issue 12, p772-777, 6p
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8
Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?
Autor: Alexander, D, Dudin, G, Talj, F, Bitar, F, Deeb, M, Khudr, A, Abboud, M, Der Kaloustian, V M
Five healthy related individuals in 3 generations of a Lebanese family have been found to have highly elevated plasma lysosomal enzyme levels inherited as a dominant Mendelian trait. The same enzymes in other extracellular fluids were within normal l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5b6d43db3040f3283d14bb8818d1cf58
https://europepmc.org/articles/PMC1684525/
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9
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon
Autor: Der Kaloustian, V M, Khoury, M J, Hallal, R, Idriss, Z H, Deeb, M E, Wakid, N W, Haddad, F S
All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and proved to have Sandhoff disease
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::92519af54fca0cca807afd4fae36bda0
https://europepmc.org/articles/PMC1684873/
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10
Akademický článek
The autosomal recessive variety of congenital stationary night-blindness with myopia.
Autor: Der Kaloustian, V M, Baghdassarian, S A
Publikováno v: Journal of Medical Genetics; Mar1972, Vol. 9 Issue 1, p67-69, 3p
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