Results 141 to 150 of about 1,786,209 (304)
League-ally Speaking was a newsletter published by the Toledo League for the Hard of Hearing in Toledo, Ohio. Incorporated in 1920, the organization was also an agency of the Toledo Community Chest. In 1947 the organization changed its name to the Toledo
Toledo League for the Hard of Hearing
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The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
League-ally Speaking was a newsletter published by the Toledo League for the Hard of Hearing in Toledo, Ohio. Incorporated in 1920, the organization was also an agency of the Toledo Community Chest. In 1947 the organization changed its name to the Toledo
Toledo League for the Hard of Hearing
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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
A transient memory lapse in humans 1–3 h after training
npj Science of LearningIn many non-human species, learning retention decreases temporarily following training. This has led to the suggestion that these lapses reflect a fundamental component of memory formation.
Beverly A. Wright, Ruijing Ning
doaj +1 more source
League-ally Speaking was a newsletter published by the Toledo League for the Hard of Hearing in Toledo, Ohio. Incorporated in 1920, the organization was also an agency of the Toledo Community Chest. In 1947 the organization changed its name to the Toledo
Toledo League for the Hard of Hearing
core
Commission on the Deaf and Hearing Impaired
, 2014 Updated irregularly; Began in 2002?; Title from home page (publisher's Web site, viewed Aug. 28, 2012).; At head of title: State of Connecticut.; Official website of the Connecticut Commission on the Deaf and Hearing Impaired.
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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