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Publications by Andrea Ciolfi
Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies
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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
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Barth Syndrome Mutations That Cause Tafazzin Complex Lability
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Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
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Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features
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Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
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