Volume 26; Issue 6

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Human Molecular Genetics
Volume 26; Issue 6

Human Molecular Genetics

Volume 26; Issue 6

1

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

Shen, Jin-Song, Arning, Erland, West, Michael L., Day, Taniqua S., Chen, Shuyuan, Meng, Xing-Li, Forni, Sabrina, McNeill, Nathan, Goker-Alpan, Ozlem, Wang, Xuan, Ashcraft, Paula, Moore, David F., Chen

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 916 KB

english, 2017

2

Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos

Jain, Deepti, Hodonsky, Chani J., Schick, Ursula M., Morrison, Jean V., Minnerath, Sharon, Brown, Lisa, Schurmann, Claudia, Liu, Yongmei, Auer, Paul L., Laurie, Cecelia A., Taylor, Kent D., Browning,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 600 KB

english, 2017

3

Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals

Matsumoto, Naoyuki, Hoshiba, Yoshio, Morita, Kazuya, Uda, Natsu, Hirota, Miwako, Minamikawa, Maki, Ebisu, Haruka, Shinmyo, Yohei, Kawasaki, Hiroshi

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

4

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

Gudmundsson, Sanna, Wilbe, Maria, Ekvall, Sara, Ameur, Adam, Cahill, Nicola, Alexandrov, Ludmil B., Virtanen, Marie, Hellström Pigg, Maritta, Vahlquist, Anders, Törmä, Hans, Bondeson, Marie-Louise

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 580 KB

english, 2017

5

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Rydning, Siri L., Backe, Paul H., Sousa, Mirta M. L., Iqbal, Zafar, Øye, Ane-Marte, Sheng, Ying, Yang, Mingyi, Lin, Xiaolin, Slupphaug, Geir, Nordenmark, Tonje H., Vigeland, Magnus D., Bjørås, Magnar,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

6

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

Stopford, Matthew J., Higginbottom, Adrian, Hautbergue, Guillaume M., Cooper-Knock, Johnathan, Mulcahy, Padraig J., De Vos, Kurt J., Renton, Alan E., Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Tray

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.25 MB

english, 2017

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