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4781.
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4782.
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4783.
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4784.
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4785.
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4786.
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Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. [electronic resource] by
- Gajecka, Marzena
- Yu, Wei
- Ballif, Blake C
- Glotzbach, Caron D
- Bailey, Kristen A
- Shaw, Chad A
- Kashork, Catherine D
- Heilstedt, Heidi A
- Ansel, David A
- Theisen, Aaron
- Rice, Ritva
- Rice, David P C
- Shaffer, Lisa G
Producer: 20050705
In:
European journal of human genetics : EJHG vol. 13
Availability: No items available.
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4787.
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4788.
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4789.
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A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. [electronic resource] by
- Mitne-Neto, Miguel
- Kok, Fernando
- Beetz, Christian
- Pessoa, André
- Bueno, Clarissa
- Graciani, Zodja
- Martyn, Marcilia
- Monteiro, Carlos B M
- Mitne, Guilherme
- Hubert, Paulo
- Nygren, Anders O H
- Valadares, Marcos
- Cerqueira, Antonia M P
- Starling, Alessandra
- Deufel, Thomas
- Zatz, Mayana
Producer: 20080122
In:
European journal of human genetics : EJHG vol. 15
Availability: No items available.
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4790.
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4791.
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Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. [electronic resource] by
- Otomo, Takanobu
- Muramatsu, Takeshi
- Yorifuji, Tohru
- Okuyama, Torayuki
- Nakabayashi, Hiroki
- Fukao, Toshiyuki
- Ohura, Toshihiro
- Yoshino, Makoto
- Tanaka, Akemi
- Okamoto, Nobuhiko
- Inui, Koji
- Ozono, Keiichi
- Sakai, Norio
Producer: 20100216
In:
Journal of human genetics vol. 54
Availability: No items available.
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4792.
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4800.
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