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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
- N. Quaderi, S. Schweiger, A. Ballabio
- Biology, MedicineNature Genetics
- 1997
TLDR
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
- F. Rousseau, D. Heitz, J. Mandel
- Medicine
- 12 December 1991
TLDR
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.
- G. Floridia, M. Piantanida, O. Zuffardi
- BiologyAmerican journal of human genetics
- 1 April 1996
TLDR
Cloning and characterization of the human choroideremia gene.
- H. van Bokhoven, J. A. van den Hurk, F. Cremers
- BiologyHuman molecular genetics
- 1 July 1994
TLDR
Chromosome aberrations in peripheral blood lymphocytes of welders and characterization of their exposure by biological samples analysis.
- Z. Elias, J. Mur, J. Fontana
- Materials ScienceJournal of occupational medicine. : official…
- 1 May 1989
TLDR
Monosomy 21q: two cases of del(21q) and review of the literature
- J. Huret, C. Léonard, S. Gilgenkrantz
- MedicineClinical genetics
- 1 September 1995
TLDR
[CHROMOSOME ABERRATIONS].
- S. Gilgenkrantz, D. Olive, M. Pierson
- MedicineAnnales medicales de Nancy
- 1963
Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint
- M. Chery, V. Biancalana, A. Hanauer
- Medicine, BiologyHuman Genetics
- 1 May 1994
TLDR
Mosaic tetrasomy 12p
- S. Gilgenkrantz, P. Droullé, M. Prieur
- MedicineClinical genetics
- 1 December 1985
TLDR
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
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