Sentences with word «dysmorphology»

«Training clinicians in dysmorphology through meetings and courses will be important for phenotypic interpretation in the era of next - generation sequencing,» she said.
Her expertise in Clinical Dysmorphology has been widely recognized by the international community.
She also initiated and continues to run an annual dysmorphology workshop at the European Society of Human Genetics (ESHG) conference, and often runs similar workshops in other countries.
Her research at the Manchester Centre for Genomic Medicine has focused on understanding the underlying causes of developmental disorders in children; in this effort, she founded the biennial International Manchester Dysmorphology Conference series in 1984, which has acted as a focus for many research collaborations.
She tested a sonic, hedgehog pathway - based treatment regimen that improves learning and memory as well as cerebellar dysmorphology in a DS model.
Through our clinic, I work with adults with all forms of genetic disease including connective tissue disease, cardiomyopathy, inherited arrhythmias, hereditary cancer syndromes, inherited eye disorders, hearing loss, intellectual disability, and dysmorphology disorders.
She was founding editor of the journal Clinical Dysmorphology, and has served as editor - in - chief since 1992.
Bioinformatics and Genomic Technology: Leader Deanna Church Cancer Genetics: Leader Fergus Couch Cardiovascular and Metabolic Genetics: Leader Ingrid Borecki Clinical Genetics and Dysmorphology: Leader Tony Wynshaw - Boris Complex Traits and Polygenic Disorders: Leader Sekar Kathiresan Evolutionary and Population Genetics: Leader Carlos Bustamante Prenatal, Perinatal, and Reproductive Genetics: Leader Diana Bianchi
In this respect special attention is paid to dysmorphology and mental retardation.
Tables are organized by topic categories, such as bioinformatics and genomic technology, clinical genetics and dysmorphology, and epigenetics.
«I believe an international approach to dysmorphology has contributed to the progress that has been made so far, in both delineating the dysmorphic features and subsequently explaining the genetic mechanisms.»
A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images.
Since then, she has held faculty and hospital appointments at CHOP and the University of Pennsylvania, where she has focused on diagnosis, dysmorphology, and applied clinical research responding to real - world situations.
It includes developmental genetics, dysmorphology, genetic counseling, prenatal diagnosis, molecular diagnostics, microarray techniques in practice, community genetics and more..
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