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Publications by Elizabeth Pugh
Homozygous Deletion in MYL9 Expands the Molecular Basis of Megacystis–microcolon–intestinal Hypoperistalsis Syndrome
European Journal of Human Genetics
Genetics
Identifying Rare Variants From Exome Scans: The GAW17 Experience
BMC Proceedings
Biochemistry
Medicine
Genetics
Molecular Biology
Related publications
Megacystis-Microcolon–Intestinal Hypoperistalsis Syndrome
Cardiac Rhabdomyomata and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome.
Journal of Medical Genetics
Genetics
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual in Utero Presentation
Journal of Ultrasound in Medicine
Nuclear Medicine
Radiology
Ultrasound Technology
Radiological
Imaging
Medicine
A Novel Mutation in ACTG2 Gene in Mother With Chronic Intestinal Pseudoobstruction and Fetus With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Case Reports in Genetics
Loss of LMOD1 Impairs Smooth Muscle Cytocontractility and Causes Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Humans and Mice
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Col11a2 Deletion Reveals the Molecular Basis for Tectorial Membrane Mechanical Anisotropy
Biophysical Journal
Biophysics
The Evaluation of DiGeorge Syndrome Gene Deletion Using Molecular Cytogenetic Techniques
BMC Genomics
Biotechnology
Genetics
Molecular and Genetic Basis of Inherited Nephrotic Syndrome
International Journal of Nephrology
Nephrology
Bartter Syndrome in Homozygous Twins
Problemy Endokrinologii
Endocrinology
Metabolism
Diabetes
