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4121.
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4122.
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4125.
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4126.
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SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. [electronic resource] by
- Schlotawa, Lars
- Ennemann, Eva Charlotte
- Radhakrishnan, Karthikeyan
- Schmidt, Bernhard
- Chakrapani, Anupam
- Christen, Hans-Jürgen
- Moser, Hugo
- Steinmann, Beat
- Dierks, Thomas
- Gärtner, Jutta
Producer: 20110531
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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4127.
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Molecular characterization of a catalase-negative Staphylococcus aureus subsp. aureus Strain collected from a patient with mitral valve endocarditis and pericarditis revealed a novel nonsense mutation in the katA gene. [electronic resource] by
- To, Kelvin K W
- Cheng, Vincent C C
- Chan, Jasper F W
- Wong, Amy C Y
- Chau, Sandy
- Tsang, Flora H F
- Curreem, Shirly O T
- Lau, Susanna K P
- Yuen, Kwok-Yung
- Woo, Patrick C Y
Producer: 20111216
In:
Journal of clinical microbiology vol. 49
Availability: No items available.
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4128.
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Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. [electronic resource] by
- Tétreault, Martine
- Choquet, Karine
- Orcesi, Simona
- Tonduti, Davide
- Balottin, Umberto
- Teichmann, Martin
- Fribourg, Sébastien
- Schiffmann, Raphael
- Brais, Bernard
- Vanderver, Adeline
- Bernard, Geneviève
Producer: 20120221
In:
American journal of human genetics vol. 89
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4129.
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Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. [electronic resource] by
- Lacroix, Matthieu
- Lacaze-Buzy, Laetitia
- Furio, Laetitia
- Tron, Elodie
- Valari, Manthoula
- Van der Wier, Gerda
- Bodemer, Christine
- Bygum, Anette
- Bursztejn, Anne-Claire
- Gaitanis, George
- Paradisi, Mauro
- Stratigos, Alexander
- Weibel, Lisa
- Deraison, Céline
- Hovnanian, Alain
Producer: 20120411
In:
The Journal of investigative dermatology vol. 132
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4130.
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Severity ranking of non-deletional alpha thalassemic alleles: insights from an Omani family study. [electronic resource] by
- Wali, Yasser
- Zadjali, Shoaib Al
- Elshinawy, Mohamed
- Beshlawi, Ismail
- Fawaz, Naglaa
- Alkindi, Salam
- Rawas, Abdulhakim
- Alsinani, Siham
- Daar, Shahina
- Krishnamoorthy, Rajagopal
Producer: 20110809
In:
European journal of haematology vol. 86
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4131.
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4132.
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4133.
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4134.
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Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. [electronic resource] by
- Atkinson, Derek
- Nikodinovic Glumac, Jelena
- Asselbergh, Bob
- Ermanoska, Biljana
- Blocquel, David
- Steiner, Regula
- Estrada-Cuzcano, Alejandro
- Peeters, Kristien
- Ooms, Tinne
- De Vriendt, Els
- Yang, Xiang-Lei
- Hornemann, Thorsten
- Milic Rasic, Vedrana
- Jordanova, Albena
Producer: 20170529
In:
Neurology vol. 88
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4135.
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4136.
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4137.
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Novel small molecules potentiate premature termination codon readthrough by aminoglycosides. [electronic resource] by
- Baradaran-Heravi, Alireza
- Balgi, Aruna D
- Zimmerman, Carla
- Choi, Kunho
- Shidmoossavee, Fahimeh S
- Tan, Jason S
- Bergeaud, Célia
- Krause, Alexandra
- Flibotte, Stéphane
- Shimizu, Yoko
- Anderson, Hilary J
- Mouly, Vincent
- Jan, Eric
- Pfeifer, Tom
- Jaquith, James B
- Roberge, Michel
Producer: 20170605
In:
Nucleic acids research vol. 44
Availability: No items available.
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4138.
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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. [electronic resource] by
- Yoon, Grace
- Malam, Zeenat
- Paton, Tara
- Marshall, Christian R
- Hyatt, Ella
- Ivakine, Zhenya
- Scherer, Stephen W
- Lee, Kyong-Soon
- Hawkins, Cynthia
- Cohn, Ronald D
Producer: 20160812
In:
The Journal of pediatrics vol. 171
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4139.
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4140.
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