Results 91 to 100 of about 64,882,224 (297)
, 2011 Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed May 23, 2011).; At head of title: State of Connecticut.; Harvested from the web on 5/24/11Official website of the Connecticut Office of Protection and Advocacy for ...
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Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
, 2013 Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed May 23, 2011).; At head of title: State of Connecticut.; Harvested from the web on 10/28/13Official website of the Connecticut Office of Protection and Advocacy for ...
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Baltic Journal of Law & Politics, 2014 Despite the applicable general principles and essential standards provided for in the law, the right of vulnerable persons (i.e. children under 18 years of age and vulnerable adults, for example, adults with mental disabilities) to a fair hearing at ...
Ažubalytė Rima +1 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
, 2014 Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed May 23, 2011).; At head of title: State of Connecticut.; Harvested from the web on 10/17/14Official website of the Connecticut Office of Protection and Advocacy for ...
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky +3 more
wiley +1 more source
Disability resource directory for people with disabilities. [Harvested on 2012: Nov. 5]
, 2006 Rev. Oct. 2006.; Cover title.; "Ver. JM.2.00"--P. [4] of cover.; Imprint from p. 4 of cover.; Previously issued as: Disability resources in Connecticut / compiled by the State Office of Protection and Advocacy for Persons with Disabilities. Hartford, CT :
core +1 more source