Associated Papers
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Munch TN et al.
Brain Communications, 2023
36694575 (PubMed )
Supplement: fcad004_supplementary_data.docx
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
Demiral M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Sokolová J et al.
Human Mutation, 2001
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