(PDF) Mutations in KCNK4 That Affect Gating Cause a

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.09.001

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Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics - United States

doi 10.1016/j.ajhg.2018.09.001

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Related search

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

Barth Syndrome Mutations That Cause Tafazzin Complex Lability

Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder