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Short Report |
Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
- Philippe Corcia
- , Caroline Ingre
- & Christian R Andres
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Article |
Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia
- Nele Berthels
- , Gert Matthijs
- & Geertrui Van Overwalle
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Article |
2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders
- Xudong Liu
- , Patrick Malenfant
- & Jeanette JA Holden
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Article |
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
- Alex R Paciorkowski
- , Liu Lin Thio
- & William B Dobyns
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Article |
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
- Jenny Zolotushko
- , Hagit Flusser
- & Ohad S Birk
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Article |
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
- Christian Wentzel
- , Evica Rajcan-Separovic
- & Ann-Charlotte Thuresson
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Article |
Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders
- Richard J L Anney
- , Elaine M Kenny
- & Louise Gallagher
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Article |
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
- Sarah Vergult
- , Danijela Krgovic
- & Björn Menten
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Article |
Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration
- Renfang Jiang
- , Jianping Dong
- & Gang Zheng
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Article |
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
- Sally Ann Lynch
- , Nicola Foulds
- & Freddie Sharkey
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Short Report |
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population
- Rossella Sorice
- , Silvia Bione
- & Daniela Toniolo
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Article |
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
- Simon C Warby
- , Henk Visscher
- & Michael R Hayden
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Article
| Open AccessGenome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population
- Pia Villanueva
- , Dianne F Newbury
- & Hernán Palomino
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Article |
Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample
- Andrew McQuillin
- , Nicholas Bass
- & Hugh Gurling
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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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Article |
Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes
- Valerio Napolioni
- , Federica Lombardi
- & Antonio M Persico
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Article |
Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome
- Marion McAllister
- , Graham Dunn
- & Chris Todd
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Letter |
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
- Laura L Klitten
- , Rikke S Møller
- & Niels Tommerup
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Article |
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
- Nicola Brunetti-Pierri
- , Alex R Paciorkowski
- & Pawel Stankiewicz
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Article |
The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study
- Sato Ashida
- , Laura M Koehly
- & Robert C Green
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Article |
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
- Christopher W Carr
- , Daniel Moreno-De-Luca
- & Omar A Abdul-Rahman
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Short Report |
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
- Fanny Mochel
- , Sandrine Duteil
- & Alexandra Durr
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Article |
Linkage and candidate gene studies of autism spectrum disorders in European populations
- Richard Holt
- , Gabrielle Barnby
- & Anthony P Monaco
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Short Report |
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
- Ulf Edener
- , Janine Wöllner
- & Christine Zühlke
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Policy |
EMQN Best Practice Guidelines for molecular genetic testing of SCAs
- Jorge Sequeiros
- , Joanne Martindale
- & Sara Seneca
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Article |
Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias
- Jorge Sequeiros
- , Sara Seneca
- & Joanne Martindale
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Article |
Common genetic variation and performance on standardized cognitive tests
- Elizabeth T Cirulli
- , Dalia Kasperavičiūtė
- & David B Goldstein
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Letter |
Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration
- Naoshi Kondo
- , Hiroaki Bessho
- & Akira Negi
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