Results 221 to 230 of about 2,388,262 (276)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain   +6 more
wiley   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh   +5 more
wiley   +1 more source

The INTEGRATE prospective cohort study: Design and methods to evaluate biopsychosocial determinants of outcomes in early liver transplantation for alcohol-associated liver disease. [PDF]

open access: yesHepatol Commun
VanWagner LB   +9 more
europepmc   +1 more source

How social is social resistance? [PDF]

open access: yesEssays Biochem
Randall R, Griffin AS.
europepmc   +1 more source

Caring for Chosen Family: A Scoping Review of Clinical Work With Chosen Family. [PDF]

open access: yesFam Process
Jenicek A   +4 more
europepmc   +1 more source

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