Results 111 to 120 of about 77,106 (331)
Sections from a Case of Progressive Spinal Muscular Atrophy of Infants (Werdnig-Hoffmann Type) [PDF]
, 1913 L. G. Parsons
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Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon +20 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong +16 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
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Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. [PDF]
, 1978 John Pearn
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Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
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PREGNANCY AND CHILDBIRTH IN A PATIENT WITH SPINAL MUSCULAR ATROPFY (CLINICAL CASE)
Мать и дитя в Кузбассе, 2020 Spinal muscle atrophy (SMA) is a group of diseases inherited by an autosomal recessive type and characterized by degeneration of cells of the anterior horns of the spinal cord.
Ирина Анатольевна Ушакова +6 more
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Distal chronic spinal muscular atrophy involving the hands. [PDF]
, 1978 D J O'Sullivan, J. G. McLeod
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Animal Models and Experimental Medicine, EarlyView.A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie +11 more
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