Results
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6621.
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6622.
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6623.
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6624.
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Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. [electronic resource] by
- Walsh, Tom
- Pierce, Sarah B
- Lenz, Danielle R
- Brownstein, Zippora
- Dagan-Rosenfeld, Orit
- Shahin, Hashem
- Roeb, Wendy
- McCarthy, Shane
- Nord, Alex S
- Gordon, Carlos R
- Ben-Neriah, Ziva
- Sebat, Jonathan
- Kanaan, Moien
- Lee, Ming K
- Frydman, Moshe
- King, Mary-Claire
- Avraham, Karen B
Producer: 20100728
In:
American journal of human genetics vol. 87
Availability: No items available.
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6625.
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6626.
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6627.
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Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. [electronic resource] by
- Lohan, S
- Spielmann, M
- Doelken, S C
- Flöttmann, R
- Muhammad, F
- Baig, S M
- Wajid, M
- Hülsemann, W
- Habenicht, R
- Kjaer, K W
- Patil, S J
- Girisha, K M
- Abarca-Barriga, H H
- Mundlos, S
- Klopocki, E
Producer: 20150525
In:
Clinical genetics vol. 86
Availability: No items available.
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6628.
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6629.
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6630.
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Genetic profile of Brazilian patients with dystrophinopathies. [electronic resource] by
- de Almeida, P A D
- Machado-Costa, M C
- Manzoli, G N
- Ferreira, L S
- Rodrigues, M C S
- Bueno, L S M
- Saute, J A M
- Pinto Vairo, F
- Matte, U S
- Siebert, M
- Cossio, S L
- Macedo, G S
- Winckler, P B
- Becker, M M
- Magalhães, L V B
- Gonçalves, M V M
- Marrone, C D
- Nucci, A
- França, M C
Producer: 20180418
In:
Clinical genetics vol. 92
Availability: No items available.
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6631.
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6632.
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6633.
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6634.
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6635.
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6636.
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6637.
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6638.
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High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study. [electronic resource] by
- Esteban, J
- de la Morena-Barrio, M E
- Salloum-Asfar, S
- Padilla, J
- Miñano, A
- Roldán, V
- Soria, J M
- Vidal, F
- Corral, J
- Vicente, V
Producer: 20180702
In:
Haemophilia : the official journal of the World Federation of Hemophilia vol. 23
Availability: No items available.
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6639.
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6640.
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The SMC5/6 Complex Subunit NSE4A Is Involved in DNA Damage Repair and Seed Development. [electronic resource] by
- Díaz, Mariana
- Pečinková, Petra
- Nowicka, Anna
- Baroux, Célia
- Sakamoto, Takuya
- Gandha, Priscilla Yuliani
- Jeřábková, Hana
- Matsunaga, Sachihiro
- Grossniklaus, Ueli
- Pecinka, Ales
Producer: 20200511
In:
The Plant cell vol. 31
Availability: No items available.
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