Results
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801.
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802.
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803.
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Investigation of the W185X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients. [electronic resource] by
- Scapoli, Luca
- Palmieri, Annalisa
- Pezzetti, Furio
- Carinci, Francesco
- Marchesini, Jlenia
- Martinelli, Marcella
- Delaiti, Gianfranco
- Tognon, Mauro
- Carinci, Paolo
- Gombos, Fernando
Producer: 20050204
In:
American journal of medical genetics. Part A vol. 127A
Availability: No items available.
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804.
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805.
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. [electronic resource] by
- Faivre, L
- Collod-Beroud, G
- Callewaert, B
- Child, A
- Binquet, C
- Gautier, E
- Loeys, B L
- Arbustini, E
- Mayer, K
- Arslan-Kirchner, M
- Stheneur, C
- Kiotsekoglou, A
- Comeglio, P
- Marziliano, N
- Wolf, J E
- Bouchot, O
- Khau-Van-Kien, P
- Beroud, C
- Claustres, M
- Bonithon-Kopp, C
- Robinson, P N
- Adès, L
- De Backer, J
- Coucke, P
- Francke, U
- De Paepe, A
- Jondeau, G
- Boileau, C
Producer: 20090508
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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806.
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807.
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A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. [electronic resource] by
- Dash, Satya
- Sano, Hiroyuki
- Rochford, Justin J
- Semple, Robert K
- Yeo, Giles
- Hyden, Caroline S S
- Soos, Maria A
- Clark, James
- Rodin, Andrew
- Langenberg, Claudia
- Druet, Celine
- Fawcett, Katherine A
- Tung, Y C Loraine
- Wareham, Nicolas J
- Barroso, Inês
- Lienhard, Gustav E
- O'Rahilly, Stephen
- Savage, David B
Producer: 20090706
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 106
Availability: No items available.
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808.
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809.
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810.
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811.
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Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. [electronic resource] by
- Mallet, A
- Kypriotou, M
- George, K
- Leclerc, E
- Rivero, D
- Mazereeuw-Hautier, J
- Serre, G
- Huber, M
- Jonca, N
- Hohl, D
Producer: 20140827
In:
The British journal of dermatology vol. 169
Availability: No items available.
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812.
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813.
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814.
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A nonsense mutation in IKBKB causes combined immunodeficiency. [electronic resource] by
- Mousallem, Talal
- Yang, Jialong
- Urban, Thomas J
- Wang, Hongxia
- Adeli, Mehdi
- Parrott, Roberta E
- Roberts, Joseph L
- Goldstein, David B
- Buckley, Rebecca H
- Zhong, Xiao-Ping
Producer: 20141126
In:
Blood vol. 124
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815.
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816.
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817.
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Truncating mutations in RBM12 are associated with psychosis. [electronic resource] by
- Steinberg, Stacy
- Gudmundsdottir, Steinunn
- Sveinbjornsson, Gardar
- Suvisaari, Jaana
- Paunio, Tiina
- Torniainen-Holm, Minna
- Frigge, Michael L
- Jonsdottir, Gudrun A
- Huttenlocher, Johanna
- Arnarsdottir, Sunna
- Ingimarsson, Oddur
- Haraldsson, Magnus
- Tyrfingsson, Thorarinn
- Thorgeirsson, Thorgeir E
- Kong, Augustine
- Norddahl, Gudmundur L
- Gudbjartsson, Daniel F
- Sigurdsson, Engilbert
- Stefansson, Hreinn
- Stefansson, Kari
Producer: 20170921
In:
Nature genetics vol. 49
Availability: No items available.
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818.
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819.
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820.
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