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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Not available
S-EPMC6688907
|
biostudies-literature
Cite
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
Not available
S-EPMC10603363
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biostudies-literature
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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774
|
biostudies-literature
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Not available
S-EPMC5294757
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biostudies-literature
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Outcomes of Preterm Infants following Discussions about Withdrawal or Withholding of Life Support.
Not available
S-EPMC5690862
|
biostudies-literature
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NICHD Magnetic Resonance Brain Imaging Score in Term Infants With Hypoxic-Ischemic Encephalopathy: A Secondary Analysis of a Randomized Clinical Trial.
Not available
S-EPMC11833650
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biostudies-literature
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Association Between Increased Seizures During Rewarming After Hypothermia for Neonatal Hypoxic Ischemic Encephalopathy and Abnormal Neurodevelopmental Outcomes at 2-Year Follow-up: A Nested Multisite Cohort Study.
Not available
S-EPMC8524352
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biostudies-literature
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Mortality, In-Hospital Morbidity, Care Practices, and 2-Year Outcomes for Extremely Preterm Infants in the US, 2013-2018.
Not available
S-EPMC8767441
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biostudies-literature
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Limitations of Conventional Magnetic Resonance Imaging as a Predictor of Death or Disability Following Neonatal Hypoxic-Ischemic Encephalopathy in the Late Hypothermia Trial.
Not available
S-EPMC7914162
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biostudies-literature
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093
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biostudies-literature
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