Results
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1521.
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1522.
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1523.
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1524.
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1525.
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X chromosome inactivation pattern in BRCA gene mutation carriers. [electronic resource] by
- Manoukian, Siranoush
- Verderio, Paolo
- Tabano, Silvia
- Colapietro, Patrizia
- Pizzamiglio, Sara
- Grati, Francesca R
- Calvello, Mariarosaria
- Peissel, Bernard
- Burn, John
- Pensotti, Valeria
- Allemani, Claudia
- Sirchia, Silva M
- Radice, Paolo
- Miozzo, Monica
Producer: 20130424
In:
European journal of cancer (Oxford, England : 1990) vol. 49
Availability: No items available.
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1526.
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Concomitant JAK2 V617F-positive polycythemia vera and B-cell chronic lymphocytic leukemia in three patients originating from two separate hematopoietic stem cells. [electronic resource] by
- Swierczek, Sabina
- Nausova, Jitka
- Jelinek, Jaroslav
- Liu, Enli
- Roda, Paul
- Kucerova, Jana
- Jarosova, Marie
- Urbankova, Helena
- Indrak, Karel
- Prchal, Josef T
- Divoky, Vladimir
Producer: 20130322
In:
American journal of hematology vol. 88
Availability: No items available.
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1527.
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1528.
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. [electronic resource] by
- Helgeson, Maria
- Keller-Ramey, Jennifer
- Knight Johnson, Amy
- Lee, Jennifer A
- Magner, Daniel B
- Deml, Brett
- Deml, Jacea
- Hu, Ying-Ying
- Li, Zejuan
- Donato, Kirsten
- Das, Soma
- Laframboise, Rachel
- Tremblay, Sandra
- Krantz, Ian
- Noon, Sarah
- Hoganson, George
- Burton, Jennifer
- Schaaf, Christian P
- Del Gaudio, Daniela
Producer: 20180827
In:
Journal of human genetics vol. 63
Availability: No items available.
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1529.
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Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti. [electronic resource] by
- Dangouloff-Ros, Volodia
- Hadj-Rabia, Smail
- Oliveira Santos, Judite
- Bal, Elodie
- Desguerre, Isabelle
- Kossorotoff, Manoelle
- An, Isabelle
- Smahi, Asma
- Bodemer, Christine
- Munnich, Arnold
- Steffann, Julie
- Boddaert, Nathalie
Producer: 20180801
In:
Molecular genetics and metabolism vol. 122
Availability: No items available.
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1530.
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Screen for reactivation of MeCP2 on the inactive X chromosome identifies the BMP/TGF-β superfamily as a regulator of XIST expression. [electronic resource] by
- Sripathy, Smitha
- Leko, Vid
- Adrianse, Robin L
- Loe, Taylor
- Foss, Eric J
- Dalrymple, Emily
- Lao, Uyen
- Gatbonton-Schwager, Tonibelle
- Carter, Kelly T
- Payer, Bernhard
- Paddison, Patrick J
- Grady, William M
- Lee, Jeannie T
- Bartolomei, Marisa S
- Bedalov, Antonio
Producer: 20180509
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 114
Availability: No items available.
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1531.
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1532.
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The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders. [electronic resource] by
- Charzewska, A
- Maiwald, R
- Kahrizi, K
- Oehl-Jaschkowitz, B
- Dufke, A
- Lemke, J R
- Enders, H
- Najmabadi, H
- Tzschach, A
- Hachmann, W
- Jensen, C
- Bienek, M
- Poznański, J
- Nawara, M
- Chilarska, T
- Obersztyn, E
- Hoffman-Zacharska, D
- Gos, M
- Bal, J
- Kalscheuer, V M
Producer: 20191114
In:
Clinical genetics vol. 94
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1533.
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1534.
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1535.
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1536.
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ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. [electronic resource] by
- Gianfrancesco, F
- Esposito, T
- Penco, S
- Maglione, V
- Liquori, C L
- Patrosso, M C
- Zuffardi, O
- Ciccodicola, A
- Marchuk, D A
- Squitieri, F
Producer: 20081203
In:
Neuroscience vol. 155
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1537.
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1538.
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1539.
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1540.
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Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing. [electronic resource] by
- Becherel, Olivier J
- Yeo, Abrey J
- Stellati, Alissa
- Heng, Evelyn Y H
- Luff, John
- Suraweera, Amila M
- Woods, Rick
- Fleming, Jean
- Carrie, Dianne
- McKinney, Kristine
- Xu, Xiaoling
- Deng, Chuxia
- Lavin, Martin F
Producer: 20130625
In:
PLoS genetics vol. 9
Availability: No items available.
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