Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli M et al.
Journal of Medical Genetics, 2022
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.
Mattioli F et al.
American Journal of Medical Genetics. Part A, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
Suzuki-Muromoto S et al.
Journal of Human Genetics, 2018
Brain calcifications and PCDH12 variants.
Nicolas G et al.
Neurology. Genetics, 2017
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A et al.
Neurology, 2016
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