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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Not available
S-EPMC6821231
|
biostudies-literature
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Not available
S-EPMC8556313
|
biostudies-literature
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Respiratory consequences of prematurity: evolution of a diagnosis and development of a comprehensive approach.
Not available
S-EPMC4414744
|
biostudies-literature
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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Not available
S-EPMC7280024
|
biostudies-literature
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Bronchopulmonary Dysplasia and Perinatal Characteristics Predict 1-Year Respiratory Outcomes in Newborns Born at Extremely Low Gestational Age: A Prospective Cohort Study.
Not available
S-EPMC5533632
|
biostudies-literature
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Prematurity and respiratory outcomes program (PROP): study protocol of a prospective multicenter study of respiratory outcomes of preterm infants in the United States.
Not available
S-EPMC4407843
|
biostudies-literature
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Global plant trait relationships extend to the climatic extremes of the tundra biome.
Not available
S-EPMC7067758
|
biostudies-literature
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The genome sequence of taurine cattle: a window to ruminant biology and evolution.
Not available
S-EPMC2943200
|
biostudies-literature
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Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth.
Not available
S-EPMC6195962
|
biostudies-literature
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Comparisons and Limitations of Current Definitions of Bronchopulmonary Dysplasia for the Prematurity and Respiratory Outcomes Program.
Not available
S-EPMC4722827
|
biostudies-literature
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