✦ LIBER ✦

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation

✍ Scribed by A D Irvine; W H I Mclean

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 297 KB
Volume: 140
Category: Article
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.1999.02810.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genotype–phenotype correlation of the Wi

Genotype–phenotype correlation of the Wilson disease ATP7B gene

✍ Lorenzo Leggio; Giovanni Addolorato; Georgios Loudianos; Ludovico Abenavoli; Gio 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

Genotype-phenotype correlations for a wi

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

✍ Panagiotakaki, Eleni ;Tzetis, Maria ;Manolaki, Nina ;Loudianos, Giorgos ;Papathe 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 2 views

Genotype spectrum of ornithine transcarb

Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype

✍ McCullough, Beth A. ;Yudkoff, Marc ;Batshaw, Mark L. ;Wilson, James M. ;Raper, S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB 👁 2 views

The phenotypic spectrum of paediatric ne

The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism

✍ R. Pons 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 325 KB

Genotype/phenotype correlation in glycog

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

✍ Daniela Melis; Rossella Fulceri; Giancarlo Parenti; Paola Marcolongo; Rosanna Ga 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 221 KB

B-Cell and T-Cell Phenotypes in CVID Pat

B-Cell and T-Cell Phenotypes in CVID Patients Correlate with the Clinical Phenotype of the Disease

✍ Gaël Mouillot; Maryvonnick Carmagnat; Laurence Gérard; Jean-Luc Garnier; Claire 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 287 KB