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Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26. [electronic resource] by
- Mangino, M
- Flex, E
- Capon, F
- Sangiuolo, F
- Carraro, E
- Gualandi, F
- Mazzoli, M
- Martini, A
- Novelli, G
- Dallapiccola, B
Producer: 20011204
In:
European journal of human genetics : EJHG vol. 9
Availability: No items available.
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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. [electronic resource] by
- Pode-Shakked, B
- Barash, H
- Ziv, L
- Gripp, K W
- Flex, E
- Barel, O
- Carvalho, K S
- Scavina, M
- Chillemi, G
- Niceta, M
- Eyal, E
- Kol, N
- Ben-Zeev, B
- Bar-Yosef, O
- Marek-Yagel, D
- Bertini, E
- Duker, A L
- Anikster, Y
- Tartaglia, M
- Raas-Rothschild, A
Producer: 20170602
In:
Clinical genetics vol. 91
Availability: No items available.
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