Results
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4561.
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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. [electronic resource] by
- Stheneur, Chantal
- Collod-Béroud, Gwenaëlle
- Faivre, Laurence
- Buyck, Jean François
- Gouya, Laurent
- Le Parc, Jean-Marie
- Moura, Bertrand
- Muti, Christine
- Grandchamp, Bernard
- Sultan, Gilles
- Claustres, Mireille
- Aegerter, Philippe
- Chevallier, Bertrand
- Jondeau, Guillaume
- Boileau, Catherine
Producer: 20100113
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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4562.
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4563.
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STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. [electronic resource] by
- Picard, Capucine
- McCarl, Christie-Ann
- Papolos, Alexander
- Khalil, Sara
- Lüthy, Kevin
- Hivroz, Claire
- LeDeist, Francoise
- Rieux-Laucat, Frédéric
- Rechavi, Gideon
- Rao, Anjana
- Fischer, Alain
- Feske, Stefan
Producer: 20090522
In:
The New England journal of medicine vol. 360
Availability: No items available.
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4564.
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Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. [electronic resource] by
- Kirk, Edwin P
- Sunde, Margaret
- Costa, Mauro W
- Rankin, Scott A
- Wolstein, Orit
- Castro, M Leticia
- Butler, Tanya L
- Hyun, Changbaig
- Guo, Guanglan
- Otway, Robyn
- Mackay, Joel P
- Waddell, Leigh B
- Cole, Andrew D
- Hayward, Christopher
- Keogh, Anne
- Macdonald, Peter
- Griffiths, Lyn
- Fatkin, Diane
- Sholler, Gary F
- Zorn, Aaron M
- Feneley, Michael P
- Winlaw, David S
- Harvey, Richard P
Producer: 20070921
In:
American journal of human genetics vol. 81
Availability: No items available.
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4565.
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TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. [electronic resource] by
- Tlili, Abdelaziz
- Rebeh, Imen Ben
- Aifa-Hmani, Mounira
- Dhouib, Houria
- Moalla, Jihen
- Tlili-Chouchène, Jihen
- Said, Mariem Ben
- Lahmar, Imed
- Benzina, Zeineb
- Charfedine, Ilhem
- Driss, Nabil
- Ghorbel, Abdelmonem
- Ayadi, Hammadi
- Masmoudi, Saber
Producer: 20080815
In:
Audiology & neuro-otology vol. 13
Availability: No items available.
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4566.
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4567.
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4568.
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4569.
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4570.
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4571.
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4572.
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4573.
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4574.
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4575.
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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. [electronic resource] by
- Kaneb, Hannah M
- Folkmann, Andrew W
- Belzil, Véronique V
- Jao, Li-En
- Leblond, Claire S
- Girard, Simon L
- Daoud, Hussein
- Noreau, Anne
- Rochefort, Daniel
- Hince, Pascale
- Szuto, Anna
- Levert, Annie
- Vidal, Sabrina
- André-Guimont, Catherine
- Camu, William
- Bouchard, Jean-Pierre
- Dupré, Nicolas
- Rouleau, Guy A
- Wente, Susan R
- Dion, Patrick A
Producer: 20151116
In:
Human molecular genetics vol. 24
Availability: No items available.
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4576.
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4577.
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4578.
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Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. [electronic resource] by
- Shehata, Bahig M
- Cundiff, Caitlin A
- Lee, Kevin
- Sabharwal, Ankit
- Lalwani, Mukesh Kumar
- Davis, Angela K
- Agrawal, Vartika
- Sivasubbu, Sridhar
- Iannucci, Glen J
- Gibson, Greg
Producer: 20160519
In:
American journal of medical genetics. Part A vol. 167A
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4579.
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4580.
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Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition. [electronic resource] by
- Chen, Qing-Wei
- Zhang, Xiao-Mei
- Zhou, Jian-Nong
- Zhou, Xin
- Ma, Guo-Jian
- Zhu, Ming
- Zhang, Yuan-Ying
- Yu, Jun
- Feng, Ji-Feng
- Chen, Sen-Qing
Producer: 20160404
In:
Asian Pacific journal of cancer prevention : APJCP vol. 16
Availability: No items available.
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