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Publications by Andrew H. Crosby
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures
American Journal of Human Genetics
Genetics
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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
American Journal of Human Genetics
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Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome
American Journal of Human Genetics
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Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
American Journal of Human Genetics
Genetics
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
American Journal of Human Genetics
Genetics
Neonatal Seizures: Impact on Neurodevelopmental Outcomes
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies
American Journal of Human Genetics
Genetics
Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome
American Journal of Human Genetics
Genetics
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics