The following pages link to Daniela T Pilz (Q130284879):
Displaying 43 items.
- Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness (Q21131974) (← links)
- The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP (Q21202849) (← links)
- Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3 (Q24532106) (← links)
- Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome (Q24542360) (← links)
- NTNG1 mutations are a rare cause of Rett syndrome (Q24644799) (← links)
- De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome (Q28260677) (← links)
- Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia (Q28289730) (← links)
- Neuronal migration, cerebral cortical development, and cerebral cortical anomalies (Q30671553) (← links)
- The genetics of lissencephaly (Q30826834) (← links)
- Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients (Q33808435) (← links)
- TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. (Q33947860) (← links)
- Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria (Q34104062) (← links)
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism (Q34237629) (← links)
- De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (Q34413824) (← links)
- Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). (Q34468937) (← links)
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (Q35079988) (← links)
- Further delineation of the KAT6B molecular and phenotypic spectrum (Q35154294) (← links)
- Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy (Q35998816) (← links)
- An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene (Q36475123) (← links)
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy (Q36615500) (← links)
- The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (Q36871119) (← links)
- Familial unilateral Brown syndrome (Q37084302) (← links)
- Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia (Q37417883) (← links)
- De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (Q37693218) (← links)
- Neuropsychiatric disease in patients with periventricular heterotopia. (Q38088985) (← links)
- Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. (Q38683360) (← links)
- Infectious bronchitis virus replication in the chicken embryo related cell line. (Q40116574) (← links)
- Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. (Q41428426) (← links)
- Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals (Q41921540) (← links)
- Phenotypic spectrum associated with CASK loss-of-function mutations (Q41934859) (← links)
- Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. (Q42519980) (← links)
- Wild rabies virus detection by plaque assay from naturally infected brains in different species (Q45559876) (← links)
- De novo mutations in GRIN1 cause extensive bilateral polymicrogyria (Q47842300) (← links)
- Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis (Q48096170) (← links)
- A rare example of germ-line chromothripsis resulting in large genomic imbalance (Q50533879) (← links)
- Early onset seizures and Rett-like features associated with mutations in CDKL5. (Q51928093) (← links)
- 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. (Q51942868) (← links)
- Gene symbol: ALMS1. (Q52854250) (← links)
- The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. (Q53160146) (← links)
- Ramos-Arroyo syndrome: confirmation of an entity. (Q53406912) (← links)
- Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. (Q53517080) (← links)
- Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation (Q56232617) (← links)
- TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities (Q91310941) (← links)