Presentation
Resources & publications
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Journal (source)Genet Med.Regulation of human cerebral cortical development by EXOC7 and EXOC8, compone...
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2019Journal (source)Neuron
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypopl...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2021Journal (source)Ann Neurol
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
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2020Journal (source)Neuron
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Feta...
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2021Journal (source)Ann Neurol
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2013Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...