Results 221 to 230 of about 1,223,395 (356)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Factors associated with hospitalization from a geriatric short-stay unit (OBI-GER): a retrospective cohort study. [PDF]

open access: yesAging Clin Exp Res
Orlandini L   +15 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Modification of the Association of B-Type Natriuretic Peptides With Mortality and Hospitalization Outcomes by Sex. [PDF]

open access: yesJACC Adv
Bobrowski D   +12 more
europepmc   +1 more source

Improved Nutritional Management Reduces Length of Hospitalization in Intractable Diarrhea [PDF]

open access: bronze, 1986
Alice E. Smith   +3 more
openalex   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello   +7 more
wiley   +1 more source

Tolerance studies with brotizolam in hospitalized patients. [PDF]

open access: bronze, 1983
O von Delbruck, E Goetzke, C Nagel
openalex   +1 more source

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