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Haploinsufficiency

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Steven Marston, Cecile Montgiraud, [ ... ], Ralph Knöll

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia

Jingping Ge, Marisa Apicella, [ ... ], Philip J. Mason

Gli1 Haploinsufficiency Leads to Decreased Bone Mass with an Uncoupling of Bone Metabolism in Adult Mice

Yoshiaki Kitaura, Hironori Hojo, [ ... ], Shinsuke Ohba

Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

Chantal Sellier, Vicki J. Hwang, [ ... ], Flora Tassone

BRCA1 Haploinsufficiency Leads to Altered Expression of Genes Involved in Cellular Proliferation and Development

Harriet E. Feilotter, Claire Michel, [ ... ], Scott Davey

p53-Independent Cell Cycle and Erythroid Differentiation Defects in Murine Embryonic Stem Cells Haploinsufficient for Diamond Blackfan Anemia-Proteins: RPS19 versus RPL5

Sharon A. Singh, Tracie A. Goldberg, [ ... ], Johnson M. Liu

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

Hitisha P. Zaveri, Tyler F. Beck, [ ... ], Daryl A. Scott

Psychiatric Illness and Intellectual Disability in the Prader–Willi Syndrome with Different Molecular Defects - A Meta Analysis

Lin Yang, Guo-dong Zhan, [ ... ], Wen-hao Zhou

Characterization of Genetic Determinants That Modulate Candida albicans Filamentation in the Presence of Bacteria

Sean J. Fox, Bryce T. Shelton, Michael D. Kruppa

Genetic Interactions between Neurofibromin and Endothelin Receptor B in Mice

Mugdha Deo, Jenny Li-Ying Huang, Catherine D. Van Raamsdonk

Endoglin Haploinsufficiency Promotes Fibroblast Accumulation during Wound Healing through Akt Activation

Miguel Pericacho, Soraya Velasco, [ ... ], Alicia Rodríguez-Barbero

Decreased Mdm2 Expression Inhibits Tumor Development and Extends Survival Independent of Arf and Dependent on p53

Christine M. Eischen, Kelli Boyd

Runx2 Haploinsufficiency Ameliorates the Development of Ossification of the Posterior Longitudinal Ligament

Makiko Iwasaki, Jinying Piao, [ ... ], Shu Takeda

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