Results
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4321.
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4322.
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Intelectin 3 is dispensable for resistance against a mycobacterial infection in zebrafish (Danio rerio). [electronic resource] by
- Ojanen, Markus J T
- Uusi-Mäkelä, Meri I E
- Harjula, Sanna-Kaisa E
- Saralahti, Anni K
- Oksanen, Kaisa E
- Kähkönen, Niklas
- Määttä, Juha A E
- Hytönen, Vesa P
- Pesu, Marko
- Rämet, Mika
Producer: 20200810
In:
Scientific reports vol. 9
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4323.
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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD). [electronic resource] by
- Arnaud, Pauline
- Hanna, Nadine
- Benarroch, Louise
- Aubart, Mélodie
- Bal, Laurence
- Bouvagnet, Patrice
- Busa, Tiffany
- Dulac, Yves
- Dupuis-Girod, Sophie
- Edouard, Thomas
- Faivre, Laurence
- Gouya, Laurent
- Lacombe, Didier
- Langeois, Maud
- Leheup, Bruno
- Milleron, Olivier
- Naudion, Sophie
- Odent, Sylvie
- Tchitchinadze, Maria
- Ropers, Jacques
- Jondeau, Guillaume
- Boileau, Catherine
Producer: 20200204
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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4324.
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Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9. [electronic resource] by
- Bohrer, Laura R
- Wiley, Luke A
- Burnight, Erin R
- Cooke, Jessica A
- Giacalone, Joseph C
- Anfinson, Kristin R
- Andorf, Jeaneen L
- Mullins, Robert F
- Stone, Edwin M
- Tucker, Budd A
Producer: 20191224
In:
Genes vol. 10
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4325.
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4326.
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Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. [electronic resource] by
- Kasak, Laura
- Punab, Margus
- Nagirnaja, Liina
- Grigorova, Marina
- Minajeva, Ave
- Lopes, Alexandra M
- Punab, Anna Maria
- Aston, Kenneth I
- Carvalho, Filipa
- Laasik, Eve
- Smith, Lee B
- Conrad, Donald F
- Laan, Maris
Producer: 20190513
In:
American journal of human genetics vol. 103
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4327.
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4328.
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4329.
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Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. [electronic resource] by
- Wu, Fiona
- Reed, Anita A C
- Williams, Sian E
- Loh, Nellie Y
- Lippiat, Jonathan D
- Christie, Paul T
- Large, Oliver
- Bettinelli, Alberto
- Dillon, Michael J
- Goldraich, Noemia P
- Hoppe, Bernd
- Lhotta, Karl
- Loirat, Chantal
- Malik, Rayaz
- Morel, Delphine
- Kotanko, Peter
- Roussel, Bernard
- Rubinger, Dvora
- Schrander-Stumpel, Connie
- Serdaroglu, Erkin
- Nesbit, M Andrew
- Ashcroft, Frances
- Thakker, Rajesh V
Producer: 20100113
In:
Nephron. Physiology vol. 112
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4330.
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4332.
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4333.
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4334.
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High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease. [electronic resource] by
- Okada, Toshihide
- Shiono, Yuta
- Kaneko, Yoshibumi
- Miwa, Kazuhiro
- Hasatani, Kenkei
- Hayashi, Yoshiaki
- Mibayashi, Hiroshi
- Aoyagi, Hiroyuki
- Tsuji, Shigetsugu
- Yoshimitsu, Masashi
- Hayashi, Hisao
- Yamagishi, Masakazu
Producer: 20110127
In:
Scandinavian journal of gastroenterology vol. 45
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4337.
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4338.
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In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. [electronic resource] by
- Sermet-Gaudelus, Isabelle
- Renouil, Michel
- Fajac, Anne
- Bidou, Laure
- Parbaille, Bastien
- Pierrot, Sébastien
- Davy, Nolwen
- Bismuth, Elise
- Reinert, Philippe
- Lenoir, Gérard
- Lesure, Jean François
- Rousset, Jean Pierre
- Edelman, Aleksander
Producer: 20070605
In:
BMC medicine vol. 5
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4339.
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Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. [electronic resource] by
- Geiger, Stephanie K
- Bär, Harald
- Ehlermann, Philipp
- Wälde, Sarah
- Rutschow, Désirée
- Zeller, Raphael
- Ivandic, Boris T
- Zentgraf, Hanswalter
- Katus, Hugo A
- Herrmann, Harald
- Weichenhan, Dieter
Producer: 20080919
In:
Journal of molecular medicine (Berlin, Germany) vol. 86
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4340.
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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. [electronic resource] by
- Liu, Yin
- Ramot, Yuval
- Torrelo, Antonio
- Paller, Amy S
- Si, Nuo
- Babay, Sofia
- Kim, Peter W
- Sheikh, Afzal
- Lee, Chyi-Chia Richard
- Chen, Yongqing
- Vera, Angel
- Zhang, Xue
- Goldbach-Mansky, Raphaela
- Zlotogorski, Abraham
Producer: 20120710
In:
Arthritis and rheumatism vol. 64
Availability: No items available.
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