Featured
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Article |
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
- Bodo B Beck
- , Anne Baasner
- & Bernd Hoppe
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Article
| Open AccessIntravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy
- Naomi Chadderton
- , Arpad Palfi
- & G Jane Farrar
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Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating
- Rachel H Flomen
- , Madiha Shaikh
- & Elvira Bramon
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Article |
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn
- Janine Reunert
- , Rüdiger Wentzell
- & Thorsten Marquardt
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Article
| Open AccessA genome-wide search for linkage to allergic rhinitis in Danish sib-pair families
- Lisbeth Venø Kruse
- , Mette Nyegaard
- & Anders Dupont Børglum
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Short Report |
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
- Michael Field
- , Ingrid E Scheffer
- & Jozef Gecz
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Article |
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
- Jill A Rosenfeld
- , Ryan N Traylor
- & Arthur S Aylsworth
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Letter |
Questionable pathogenicity of FOXG1 duplication
- David J Amor
- , Trent Burgess
- & Mark D Pertile
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Article |
Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process
- Abraham Kuot
- , Alex W Hewitt
- & Kathryn P Burdon
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Article |
Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis
- Marina Korotkova
- , Nina A Daha
- & Leonid Padyukov
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Article |
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma
- Lorena Fernández-Martínez
- , Stef Letteboer
- & Francesca Pasutto
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Article |
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy
- Paulien Smits
- , Ann Saada
- & Lambert P van den Heuvel
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Article |
SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?
- Katja Ritz
- , Barbera DC van Schaik
- & Frank Baas
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Clinical Utility Gene Card |
Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome
- Agatino Battaglia
- , Sarah South
- & John C Carey
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Article |
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia
- Christian P Schaaf
- , Robin P Goin-Kochel
- & Marwan Shinawi
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Clinical Utility Gene Card |
Clinical utility gene card for: Holoprosencephaly
- Christèle Dubourg
- , Véronique David
- & Erich Roessler
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Article |
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
- Aimée DC Paulussen
- , Constance T Schrander-Stumpel
- & Jos Herbergs
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Short Report |
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
- Alessandra Pontillo
- , Elisa Paoluzzi
- & Sergio Crovella
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Article |
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
- Kathryn E McDougal
- , Deanna M Green
- & Garry R Cutting