Human Genetics,volume 130,issue 4  (10-2011)

Period of time: 2011年4期

Publisher: Springer Publishing Company

Founded in: 1913

Total resources: 46

ISSN: 0340-6717

Subject: Q3 Genetics

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Human Genetics,volume 130,issue 4

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loss-of-function mutations in developmental eye disorders including SHORT syndrome

By Reis Linda,Tyler Rebecca,Schilter Kala,Abdul-Rahman Omar,Innis Jeffrey,Kozel Beth,Schneider Adele,Bardakjian Tanya,Lose Edward,Martin Donna,Broeckel Ulrich,Semina Elena in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 495-504

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Technology-specific error signatures in the 1000 Genomes Project data

By Nothnagel Michael,Herrmann Alexander,Wolf Andreas,Schreiber Stefan,Platzer Matthias,Siebert Reiner,Krawczak Michael,Hampe Jochen in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 505-516

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

By Burnside Rachel,Pasion Romela,Mikhail Fady,Carroll Andrew,Robin Nathaniel,Youngs Erin,Gadi Inder,Keitges Elizabeth,Jaswaney Vikram,Papenhausen Peter,Potluri Venkateswara,Risheg Hiba,Rush Brooke,Smith Janice,Schwartz Stuart,Tepperberg James,Butler Merlin in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 517-528

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Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility

By Sehrawat Badan,Sridharan Malinee,Ghosh Sunita,Robson Paula,Cass Carol,Mackey John,Greiner Russell,Damaraju Sambasivarao in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 529-537

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Identification of QTL genes for BMD variation using both linkage and gene-based association approaches

By Li Gloria,Cheung Ching-Lung,Xiao Su-Mei,Lau Kam-Shing,Gao Yi,Bow Cora,Huang Qing-Yang,Sham Pak-Chung,Kung Annie in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 539-546

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

By Gauthier Julie,Siddiqui Tabrez,Huashan Peng,Yokomaku Daisaku,Hamdan Fadi,Champagne Nathalie,Lapointe Mathieu,Spiegelman Dan,Noreau Anne,Lafrenière Ronald,Fathalli Ferid,Joober Ridha,Krebs Marie-Odile,DeLisi Lynn,Mottron Laurent,Fombonne Éric,Michaud Jacques,Drapeau Pierre,Carbonetto Salvatore,Craig Ann,Rouleau Guy in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 563-573

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- CAG repeat expansions are interrupted in ALS patients

By Corrado Lucia,Mazzini Letizia,Oggioni Gaia,Luciano Bernadetta,Godi Michela,Brusco Alfredo,D’Alfonso Sandra in (2011)

Human Genetics,volume 130,issue 4 , Vol. 130, Iss. 4, 2011-10 , pp. 575-580

Springer Publishing Company

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