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1999 |
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Distinct phenotypes distinguish the molecular classes of Angelman syndrome
11 auth.
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Angelman syndrome: Consensus for diagnostic criteria
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TFAP2A mutations result in branchio-oculo-facial syndrome.
11 auth.
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Exome sequencing for the diagnosis of 46,XY disorders of sex development.
21 auth.
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Aldehyde dehydrogenase activity as a functional marker for lung cancer.
8 auth.
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Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
11 auth.
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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
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Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
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1990 |
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Enhanced interpretation of newborn screening results without analyte cutoff values
127 auth.
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6 |
2012 |
6
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