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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886
|
biostudies-literature
Cite
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Not available
S-EPMC8354857
|
biostudies-literature
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349
|
biostudies-literature
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Mortality in acute pancreatitis with persistent organ failure is determined by the number, type, and sequence of organ systems affected.
Not available
S-EPMC8259236
|
biostudies-literature
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Further evidence for the involvement of
EFL1
in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Not available
S-EPMC6169826
|
biostudies-literature
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Sociodemographic and clinical factors associated with poor COVID-19 outcomes in patients with rheumatic diseases: data from the SAR-COVID Registry.
Not available
S-EPMC9535223
|
biostudies-literature
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Obesity and alcoholic etiology as risk factors for multisystem organ failure in acute pancreatitis: Multinational study.
Not available
S-EPMC10165322
|
biostudies-literature
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The relationship between pre-existing diabetes mellitus and the severity of acute pancreatitis: Report from a large international registry.
Not available
S-EPMC8894899
|
biostudies-literature
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The Modified Pancreatitis Activity Scoring System Shows Distinct Trajectories in Acute Pancreatitis: An International Study.
Not available
S-EPMC9060638
|
biostudies-literature
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Cardioneuroablation for the management of patients with recurrent vasovagal syncope and symptomatic bradyarrhythmias: the CNA-FWRD Registry.
Not available
S-EPMC12064083
|
biostudies-literature
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