Results
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2661.
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2662.
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2663.
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2664.
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2665.
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2666.
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2667.
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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. [electronic resource] by
- Sarrión, P
- Sangorrin, A
- Urreizti, R
- Delgado, A
- Artuch, R
- Martorell, L
- Armstrong, J
- Anton, J
- Torner, F
- Vilaseca, M A
- Nevado, J
- Lapunzina, P
- Asteggiano, C G
- Balcells, S
- Grinberg, D
Producer: 20130816
In:
Scientific reports vol. 3
Availability: No items available.
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2668.
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2669.
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2670.
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2671.
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2672.
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2673.
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Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. [electronic resource] by
- Seki, H
- Kubota, T
- Ikegawa, S
- Haga, N
- Fujioka, F
- Ohzeki, S
- Wakui, K
- Yoshikawa, H
- Takaoka, K
- Fukushima, Y
Producer: 20010531
In:
American journal of medical genetics vol. 99
Availability: No items available.
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2674.
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Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. [electronic resource] by
- Brémond-Gignac, Dominique
- Crolla, John A
- Copin, Henri
- Guichet, Agnès
- Bonneau, Dominique
- Taine, Laurence
- Lacombe, Didier
- Baumann, Clarisse
- Benzacken, Brigitte
- Verloes, Alain
Producer: 20050721
In:
European journal of human genetics : EJHG vol. 13
Availability: No items available.
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2675.
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Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils. [electronic resource] by
- Steplewski, Andrzej
- Ito, Hidetoshi
- Rucker, Eileen
- Brittingham, Raymond J
- Alabyeva, Tatiana
- Gandhi, Milind
- Ko, Frank K
- Birk, David E
- Jimenez, Sergio A
- Fertala, Andrzej
Producer: 20050415
In:
Journal of structural biology vol. 148
Availability: No items available.
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2676.
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New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. [electronic resource] by
- Heinritz, Wolfram
- Hüffmeier, Ulrike
- Strenge, Sibylle
- Miterski, Bianca
- Zweier, Christiane
- Leinung, Steffen
- Bohring, Axel
- Mitulla, Beate
- Peters, Usha
- Froster, Ursula G
Producer: 20090708
In:
Annals of human genetics vol. 73
Availability: No items available.
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2677.
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2678.
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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. [electronic resource] by
- Hamanaka, Kohei
- Sugawara, Yuji
- Shimoji, Takeyoshi
- Nordtveit, Tone Irene
- Kato, Mitsuhiro
- Nakashima, Mitsuko
- Saitsu, Hirotomo
- Suzuki, Toshimitsu
- Yamakawa, Kazuhiro
- Aukrust, Ingvild
- Houge, Gunnar
- Mitsuhashi, Satomi
- Takata, Atsushi
- Iwama, Kazuhiro
- Alkanaq, Ahmed
- Fujita, Atsushi
- Imagawa, Eri
- Mizuguchi, Takeshi
- Miyake, Noriko
- Miyatake, Satoko
- Matsumoto, Naomichi
Producer: 20190520
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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2679.
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2680.
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