Zvi Borochowitz
Assuta Medical Center(IL)Rappaport Family Institute for Research in the Medical Sciences(IL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Congenital heart defects research
Most-Cited Works
- → Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia(2002)562 cited
- → SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4(2008)278 cited
- → Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia(2001)241 cited
- → Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations(1998)218 cited
- → Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia(2009)112 cited
- → Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications(2008)108 cited