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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3. [electronic resource] by
- Delahaye, A
- Toutain, A
- Aboura, A
- Dupont, C
- Tabet, A C
- Benzacken, B
- Elion, J
- Verloes, A
- Pipiras, E
- Drunat, S
Producer: 20091113
In:
European journal of medical genetics vol. 52
Availability: No items available.
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18.
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De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation. [electronic resource] by
- Delahaye, A
- Pipiras, E
- Kanafani, S
- Touboul, C
- Vergnaud, A
- Encha-Razavi, F
- Sinico, M
- Benkhalifa, M
- Kasakyan, S
- Serero, S
- Wolf, J P
- Gérard-Blanluet, M
- Benzacken, B
Producer: 20070703
In:
Fetal diagnosis and therapy vol. 22
Availability: No items available.
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19.
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? [electronic resource] by
- Jaillard, S
- Dubourg, C
- Gérard-Blanluet, M
- Delahaye, A
- Pasquier, L
- Dupont, C
- Henry, C
- Tabet, A-C
- Lucas, J
- Aboura, A
- David, V
- Benzacken, B
- Odent, S
- Pipiras, E
Producer: 20100311
In:
Journal of medical genetics vol. 46
Availability: No items available.
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20.
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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. [electronic resource] by
- Delahaye, A
- Sznajer, Y
- Lyonnet, S
- Elmaleh-Bergès, M
- Delpierre, I
- Audollent, S
- Wiener-Vacher, S
- Mansbach, A-L
- Amiel, J
- Baumann, C
- Bremond-Gignac, D
- Attié-Bitach, T
- Verloes, A
- Sanlaville, D
Producer: 20071105
In:
Clinical genetics vol. 72
Availability: No items available.
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