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Microcephaly

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David

published 06 Feb 2015

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Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

Douglas R. Stewart, Alexander Pemov, Jennifer J. Johnston, Julie C. Sapp, Meredith Yeager, Ji He, Joseph F. Boland, Laurie Burdett, Christina Brown, Richard A. Gatti, Blanche P. Alter, Leslie G. Biesecker, Sharon A. Savage

published 03 Jun 2014

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Mitochondrial Uptake of Thiamin Pyrophosphate: Physiological and Cell Biological Aspects

Veedamali S. Subramanian, Svetlana M. Nabokina, Yaping Lin-Moshier, Jonathan S. Marchant, Hamid M. Said

published 30 Aug 2013

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Homo floresiensis Contextualized: A Geometric Morphometric Comparative Analysis of Fossil and Pathological Human Samples

Karen L. Baab, Kieran P. McNulty, Katerina Harvati

published 10 Jul 2013

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Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss

published 17 Jan 2012

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Angelman Syndrome Protein UBE3A Interacts with Primary Microcephaly Protein ASPM, Localizes to Centrosomes and Regulates Chromosome Segregation

Pooja Singhmar, Arun Kumar

published 25 May 2011

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A Non-Specific Effect Associated with Conditional Transgene Expression Based on Cre-loxP Strategy in Mice

Linghua Qiu, Jaime A. Rivera-Pérez, Zuoshang Xu

published 10 May 2011

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