Results
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1481.
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1484.
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Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome. [electronic resource] by
- Gono, Takahisa
- Yazaki, Masahide
- Agematsu, Kazunaga
- Matsuda, Masayuki
- Yasui, Kozo
- Yamaura, Maki
- Hidaka, Fumio
- Mizukami, Tomoyuki
- Nunoi, Hiroyuki
- Kubota, Takeo
- Ikeda, Shu-Ichi
Producer: 20080731
In:
Internal medicine (Tokyo, Japan) vol. 47
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1485.
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1486.
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1487.
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1488.
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Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome. [electronic resource] by
- Bonora, G
- Deng, X
- Fang, H
- Ramani, V
- Qiu, R
- Berletch, J B
- Filippova, G N
- Duan, Z
- Shendure, J
- Noble, W S
- Disteche, C M
Producer: 20181217
In:
Nature communications vol. 9
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1489.
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1490.
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. [electronic resource] by
- Ragge, Nicola
- Isidor, Bertrand
- Bitoun, Pierre
- Odent, Sylvie
- Giurgea, Irina
- Cogné, Benjamin
- Deb, Wallid
- Vincent, Marie
- Le Gall, Jessica
- Morton, Jenny
- Lim, Derek
- Le Meur, Guylène
- Zazo Seco, Celia
- Zafeiropoulou, Dimitra
- Bax, Dorine
- Zwijnenburg, Petra
- Arteche, Anara
- Swafiri, Saoud Tahsin
- Cleaver, Ruth
- McEntagart, Meriel
- Kini, Usha
- Newman, William
- Ayuso, Carmen
- Corton, Marta
- Herenger, Yvan
- Jeanne, Médéric
- Calvas, Patrick
- Chassaing, Nicolas
Producer: 20190830
In:
Human genetics vol. 138
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1491.
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1492.
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The XIST noncoding RNA functions independently of BRCA1 in X inactivation. [electronic resource] by
- Xiao, Cuiying
- Sharp, Judith A
- Kawahara, Misako
- Davalos, Albert R
- Difilippantonio, Michael J
- Hu, Ying
- Li, Wenmei
- Cao, Liu
- Buetow, Ken
- Ried, Thomas
- Chadwick, Brian P
- Deng, Chu-Xia
- Panning, Barbara
Producer: 20070412
In:
Cell vol. 128
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1493.
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1494.
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1495.
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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. [electronic resource] by
- Hardwick, Simon A
- Reuter, Kirsten
- Williamson, Sarah L
- Vasudevan, Vidya
- Donald, Jennifer
- Slater, Katrina
- Bennetts, Bruce
- Bebbington, Ami
- Leonard, Helen
- Williams, Simon R
- Smith, Robert L
- Cloosterman, Desiree
- Christodoulou, John
Producer: 20080122
In:
European journal of human genetics : EJHG vol. 15
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1496.
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1497.
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1498.
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1499.
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Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease. [electronic resource] by
- Sirleto, Pietro
- Surace, Cecilia
- Santos, Helena
- Bertini, Enrico
- Tomaiuolo, Anna C
- Lombardo, Antonietta
- Boenzi, Sara
- Bevivino, Elsa
- Dionisi-Vici, Carlo
- Angioni, Adriano
Producer: 20090616
In:
Pediatric research vol. 65
Availability: No items available.
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1500.
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