Results 151 to 160 of about 682,662 (388)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
Taking Context to Heart: Momentary Emotions, Menstrual Cycle, and Cardiac Autonomic Regulation [PDF]
, 2019 Background. Emotions have long been discussed in conjunction with the autonomic nervous system. Most research on heart-mood linkages does not consider sex differences or an evident underlying mechanism for sex differences- sex hormone levels.
Simon, Shauna
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
wiley +1 more source
Structural validity of Balance Evaluation Systems Test assessed usingfactor and Rasch analyses in patients with stroke [PDF]
, 2019 学位記番号 ...
Miyata, Kazuhiro +2 more
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Prevalence of Inappropriate Antibiotic Prescriptions Among US Ambulatory Care Visits, 2010-2011.
Journal of the American Medical Association (JAMA), 2016 K. Fleming-Dutra +23 more
semanticscholar +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Electrocardiography in horses, part 1: how to make a good recording [PDF]
, 2010 Upon auscultation, cardiac dysrhythmias can be suspected, but electrocardiography is the ultimate diagnostic tool. Electrocardiogram (ECG) recording used to be reserved to specialized centers, but nowadays relatively cheap and small recorders are ...
De Clercq, Dominique +5 more
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