Y. Finezilber

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

G. Rechavi, B. Pode-Shakked, O. Barel, 2021, Scientific Reports.

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

B. Pode-Shakked, O. Barel, N. Kol, 2019, European journal of medical genetics.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Genotype-Serotype Interactions Shed Light on Genetic Components of Inflammatory Bowel Diseases.

S. Ben-Shachar, I. Dotan, O. Isakov, 2018, Inflammatory bowel diseases.

Extensive Mongolian Spots and Lysosomal Storage Diseases.

A. Mimouni-Bloch, Y. Finezilber, A. Raas‐Rothschild, 2016, The Journal of pediatrics.

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.

N. Fleischer, B. Pode-Shakked, L. Greenbaum, 2020, European journal of medical genetics.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.