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Review |
| Psychological consequences of predictive genetic testing: a systematic review |
731 |
| Marita Broadstock,
Susan Michie & Theresa Marteau
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Abstract
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Articles |
| Protection of privacy by third-party encryption in genetic research in Iceland |
739 |
| Jeffrey R Gulcher,
Kristleifur Kristjánsson,
Hákon Gudbjartsson & Kári Stefánsson
|
|
Abstract
Full Article (PDF)
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| Inheritance of human longevity in Iceland |
743 |
| Hjalti Gudmundsson,
Daniel F Gudbjartsson,
Augustine Kong,
Hákon Gudbjartsson,
Mike Frigge,
Jeffrey R Gulcher & Kári Stefánsson
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Abstract
Full Article (PDF)
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| Inferring the impact of linguistic boundaries on population differentiation: application to the Afro-Asiatic-Indo-European case |
750 |
| Isabelle Dupanloup de Ceuninck,
Stefan Schneider,
André Langaney & Laurent Excoffier
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Abstract
Full Article (PDF)
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| Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland |
757 |
| Laura Sarantaus,
Pia Huusko,
Hannaleena Eerola,
Virpi Launonen,
Paula Vehmanen,
Katrin Rapakko,
Elizabeth Gillanders,
Kirsi Syrjäkoski,
Tommi Kainu,
Pia Vahteristo,
Ralf Krahe,
Kati Pääkkönen,
Jaana Hartikainen,
Carl Blomqvist,
Tuija Löppönen,
Kaija Holli,
Markku Ryynänen,
Ralf Bützow,
Åke Borg,
Brita Wasteson Arver,
Eva Holmberg,
Arto Mannermaa,
Juha Kere,
Olli-Pekka Kallioniemi,
Robert Winqvist & Heli Nevanlinna
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Abstract
Full Article (PDF)
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| FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes |
764 |
| Blake C Ballif,
Catherine D Kashork & Lisa G Shaffer
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Abstract
Full Article (PDF)
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| Hereditary spastic paraplegia caused by mutations in the SPG4 gene |
771 |
| Joachim Bürger,
Nuria Fonknechten,
Maria Hoeltzenbein,
Luitgart Neumann,
Elfriede Bratanoff,
Jamilé Hazan & André Reis
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Abstract
Full Article (PDF)
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| A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 |
777 |
| Cristiana Lo Nigro,
Roberto Cusano,
Monica Scaranari,
Roberta Cinti,
Paola Forabosco,
Vincenzo Brescia Morra,
Giuseppe De Michele,
Lucio Santoro,
Sally Davies,
Jane Hurst,
Marcella Devoto,
Roberto Ravazzolo & Marco Seri
|
|
Abstract
Full Article (PDF)
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| NRL S50T mutation and the importance of founder effects in inherited retinal dystrophies |
783 |
| David AR Bessant,
Annette M Payne,
Catherine Plant,
Alan C Bird,
Anand Swaroop & Shomi S Bhattacharya
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|
Abstract
Full Article (PDF)
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| The IL9R region contribution in asthma is supported by genetic association in an isolated population |
788 |
| Paula Kauppi,
Tarja Laitinen,
Vesa Ollikainen,
Heikki Mannila,
Lauri A Laitinen & Juha Kere
|
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Abstract
Full Article (PDF)
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Short Reports |
| Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family |
793 |
| Ieke B Ginjaar,
Alexander LJ Kneppers,
Jan-Douwe M v d Meulen,
Louise VB Anderson,
Mattie Bremmer-Bout,
Judith CT van Deutekom,
Jitske Weegenaar,
Johan T den Dunnen & Egbert Bakker
|
|
Abstract
Full Article (PDF)
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| A new mutation in the six-domain of SIX3 gene causes holoprosencephaly |
797 |
| L Pasquier,
C Dubourg,
M Blayau,
L Lazaro,
B Le Marec,
V David & S Odent
|
|
Abstract
Full Article (PDF)
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| Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome |
801 |
| Anne Bergman & Elisabeth Blennow
|
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Abstract
Full Article (PDF)
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| A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin |
805 |
| N Simon Thomas,
Andrew R Collins,
Terry J Hassold & Patricia A Jacobs
|
|
Abstract
Full Article (PDF)
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| Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 |
809 |
| F Sangiuolo,
E Bruscia,
F Capon,
S Servidei,
B Dallapiccola & G Novelli
|
|
Abstract
Full Article (PDF)
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Course Profile |
| From developmental biology to dysmorphology |
813 |
| Roberto Ravazzolo,
Giulio Cossu & Raoul CM Hennekam
|
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Full Article (PDF)
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