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Publications by Pavle Matak

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

American Journal of Human Genetics

English

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Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics

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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

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

American Journal of Human Genetics

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

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

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LRIG2 Mutations Cause Urofacial Syndrome

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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American Journal of Human Genetics

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