Results
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2741.
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2742.
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Gene symbol: SCN1A. Disease: Generalized epilepsy with febrile seizures plus. [electronic resource] by
- Sun, Huihui
- Zhang, Yuehua
- Liang, Jianmin
- Liu, Xiaoyan
- Ma, Xiuwei
- Wu, Husheng
- Xu, Keming
- Qin, Jiong
- Qi, Yu
- Wu, Xiru
Producer: 20081024
In:
Human genetics vol. 124
Availability: No items available.
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2743.
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2744.
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A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. [electronic resource] by
- Chen, Ming
- Kuo, Hsiang-Hsu
- Huang, Yi-Chen
- Ke, Yu-Yuan
- Chang, Shun-Ping
- Chen, Chih-Ping
- Lee, Dong-Jay
- Lee, Meng-Luen
- Lee, Mei-Hui
- Chen, Tze-Ho
- Chen, Chia-Hsiang
- Lin, Hui-Mei
- Liu, Chin-San
- Ma, Gwo-Chin
Producer: 20090923
In:
American journal of medical genetics. Part A vol. 149A
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2745.
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2746.
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2747.
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A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. [electronic resource] by
- Faiyaz-Ul-Haque, Muhammad
- Al-Jefri, Abdullah
- Al-Dayel, Fouad
- Bhuiyan, Jalaluddin A K M
- Abalkhail, Hala A
- Al-Nounou, Randa
- Al-Abdullatif, Ahmed
- Pulicat, Monogaran S
- Gaafar, Ameera
- Alaiya, Ayodele A
- Peltekova, Iskra
- Zaidi, Syed H E
Producer: 20100726
In:
European journal of pediatrics vol. 169
Availability: No items available.
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2748.
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EYS is a major gene for rod-cone dystrophies in France. [electronic resource] by
- Audo, Isabelle
- Sahel, José-Alain
- Mohand-Saïd, Saddek
- Lancelot, Marie-Elise
- Antonio, Aline
- Moskova-Doumanova, Veselina
- Nandrot, Emeline F
- Doumanov, Jordan
- Barragan, Isabel
- Antinolo, Guillermo
- Bhattacharya, Shomi S
- Zeitz, Christina
Producer: 20100730
In:
Human mutation vol. 31
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2749.
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2750.
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Novel hemophilia B mouse models exhibiting a range of mutations in the Factor IX gene. [electronic resource] by
- Sabatino, Denise E
- Armstrong, Elina
- Edmonson, Shyrie
- Liu, Yi-Lin
- Pleimes, Marc
- Schuettrumpf, Joerg
- Fitzgerald, Julie
- Herzog, Roland W
- Arruda, Valder R
- High, Katherine A
Producer: 20041214
In:
Blood vol. 104
Availability: No items available.
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2751.
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2752.
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In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. [electronic resource] by
- Donadelli, Roberta
- Banterla, Federica
- Galbusera, Miriam
- Capoferri, Cristina
- Bucchioni, Sara
- Gastoldi, Sara
- Nosari, Silvia
- Monteferrante, Giuseppe
- Ruggeri, Zaverio M
- Bresin, Elena
- Scheiflinger, Friedrich
- Rossi, Edoardo
- Martinez, Constantino
- Coppo, Rosanna
- Remuzzi, Giuseppe
- Noris, Marina
Producer: 20061113
In:
Thrombosis and haemostasis vol. 96
Availability: No items available.
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2753.
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No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. [electronic resource] by
- Clancy, John P
- Rowe, Steven M
- Bebok, Zsuzsa
- Aitken, Moira L
- Gibson, Ron
- Zeitlin, Pam
- Berclaz, Pierre
- Moss, Rick
- Knowles, Michael R
- Oster, Robert A
- Mayer-Hamblett, Nicole
- Ramsey, Bonnie
Producer: 20070711
In:
American journal of respiratory cell and molecular biology vol. 37
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2754.
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2755.
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High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability. [electronic resource] by
- Gong, Xiaohong
- Jiang, Yu-Wu
- Zhang, Xin
- An, Yu
- Zhang, Jun
- Wu, Ye
- Wang, Jingmin
- Sun, Yangfei
- Liu, Yanyan
- Gao, Xuewu
- Shen, Yiping
- Wu, Xiru
- Qiu, Zilong
- Jin, Li
- Wu, Bai-Lin
- Wang, Hongyan
Producer: 20120807
In:
PloS one vol. 7
Availability: No items available.
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2756.
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism. [electronic resource] by
- Sanders, Stephan J
- Murtha, Michael T
- Gupta, Abha R
- Murdoch, John D
- Raubeson, Melanie J
- Willsey, A Jeremy
- Ercan-Sencicek, A Gulhan
- DiLullo, Nicholas M
- Parikshak, Neelroop N
- Stein, Jason L
- Walker, Michael F
- Ober, Gordon T
- Teran, Nicole A
- Song, Youeun
- El-Fishawy, Paul
- Murtha, Ryan C
- Choi, Murim
- Overton, John D
- Bjornson, Robert D
- Carriero, Nicholas J
- Meyer, Kyle A
- Bilguvar, Kaya
- Mane, Shrikant M
- Sestan, Nenad
- Lifton, Richard P
- Günel, Murat
- Roeder, Kathryn
- Geschwind, Daniel H
- Devlin, Bernie
- State, Matthew W
Producer: 20120625
In:
Nature vol. 485
Availability: No items available.
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2757.
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2758.
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2759.
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. [electronic resource] by
- Häberle, Johannes
- Shchelochkov, Oleg A
- Wang, Jing
- Katsonis, Panagiotis
- Hall, Lynn
- Reiss, Sara
- Eeds, Angela
- Willis, Alecia
- Yadav, Meeta
- Summar, Samantha
- Lichtarge, Olivier
- Rubio, Vicente
- Wong, Lee-Jun
- Summar, Marshall
Producer: 20110919
In:
Human mutation vol. 32
Availability: No items available.
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2760.
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Molecular and cellular characterization of a new α-thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon. [electronic resource] by
- Qadah, Talal
- Finlayson, Jill
- Newbound, Christopher
- Pell, Nicole
- Pascoe, Michelle
- Greenwood, Laura
- Holmes, Paula
- Grey, Dianne
- Beilby, John
- Ghassemifar, Reza
Producer: 20121009
In:
Hemoglobin vol. 36
Availability: No items available.
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