Antonarakis, Stylianos E.
Antonarakis, Stylianos E. 1951-
Στυλιανός Αντωναράκης Έλληνας γενετιστής
Stylianos Antonarakis
Antonarakis, Stylianos, 1951-
Αντωναράκης, Στυλιανός (1951-)
VIAF ID: 59174130 ( Personal )
Permalink: http://viaf.org/viaf/59174130
Preferred Forms
- 200 _ | ‡a Antonarakis ‡b Stylianos E.
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- 100 1 _ ‡a Antonarakis, Stylianos E.
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- 100 1 _ ‡a Antonarakis, Stylianos E.
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- 100 1 _ ‡a Antonarakis, Stylianos E. (sparse)
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- 100 1 _ ‡a Antonarakis, Stylianos E. ‡d 1951-
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- 100 0 _ ‡a Stylianos Antonarakis
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- 100 0 _ ‡a Στυλιανός Αντωναράκης ‡c Έλληνας γενετιστής
4xx's: Alternate Name Forms (22)
Works
Title | Sources |
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function | |
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP50) by exon trapping and mapping to chromosome 21q22.1-q22.2 | |
"Compensatory" uniparental disomy of chromosome 21 in two cases | |
Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR) : rapid detection of deletions and duplications of gene sequences | |
Early-onset dementias : clinical, neuropathological and genetic characteristics | |
Genome linkage scanning : systematic or intelligent ? | |
Haemophilia A : database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition | |
Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALSI on chromosome 21 | |
LKB1 interacts with and phosphorylates PTEN : a functional link between two proteins involved in cancer predisposing syndromes | |
Localization of a human homolog of the mouse "Tiam-1" gene to chromosome 21q22.1 | |
Maladie ne désarme pas..., ...ne désarmons pas la médecine | |
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21 | |
Medical and health genomics | |
Mendelian inheritance in man, 1990: | |
Molecular genetics of coagulation factor VIII gene and hemophilia A | |
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family | |
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination | |
Normal phenotype with paternal uniparental isodisomy for chromosome 21 | |
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives | |
Report of the fifth International Workshop on Human Chromosome 21 Mapping 1994 | |
Santé personnalisée : tous des malades en puissance ? | |
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11 | |
Single-minded and down syndrome ? | |
Structure of the human CRFB4 gene : comparison with its IFNAR neighbor | |
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A | |
Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe | |
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis | |
Uniparental disomy and genomic imprinting in medicine, c2002: | |
Variation génomique, santé et biobanques : les biobanques sont-elles un "bien public"? | |
Vogel and Motulsky's human genetics : problems and approaches. | |
Les voies Hedgehog et NF-κB au coeur de l'homéostasie cutanée : apport de la caractérisation génétique et physiopathologique de deux dysplasies ectodermiques liées à l'X, le syndrome de Bazex-Dupré-Christol et l'Incontinentia Pigmenti |