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Anatomical characterization of the inferior petrosal sinus and adjacent cerebellopontine angle cistern for development of an endovascular transdural cerebrospinal fluid shunt.J Neurointerv Surg. 2019 Jun;11(6):598-602. doi: 10.1136/neurintsurg-2018-014445. Epub 2019 Jan 9.
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A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11.
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279.
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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.
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Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.BMC Med Genet. 2018 Mar 2;19(1):34. doi: 10.1186/s12881-018-0540-x.
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
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