Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik‐Chor, Zvi Borochowitz, +19

Human Mutation

Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

Bruria Ben Zeev, Yuval Yaron, N. Carolyn Schanen, +5

Journal of Child Neurology

Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer

Paul Rozen, Ruth Shomrat, Hana Strul, +4

Gastroenterology

Cancer RiskCancer EpidemiologyMedicineGeneticsGenetic Epidemiology +11

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to <i>NR0B1</i> gene mutations

Zohar Landau, Aaron Hanukoglu, Joseph Sack, +8

Clinical Endocrinology

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9

Paul Rozen, Ziona Samuel, Ruth Shomrat, +1

Gut

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Lubov Blumkin, Sara Kivity, Dorit Lev, +4

Journal of Neurology

Mendelian DisorderGenetic DisorderMedicineGeneticsPathology +8

Dynamic changes of red cell membrane thiol groups followed by bimane fluorescent labeling

Nechama S. Kosower, Edward M. Kosower, Yehudit Zipser, +2

Biochimica et Biophysica Acta (BBA) - Biomembranes

Proteinlipid InteractionDynamic ChangesSignal TransductionBiochemistryBimane Fluorescent +10

High Frequency of a Common Bloom Syndrome Ashkenazi Mutation Among Jews of Polish Origin

LIMOR SHAHRABANI-GARGIR, Ruth Shomrat, Yuval Yaron, +3

Genetic Testing

GeneticsGenetic EpidemiologyHuman PolymorphismPathologyBlm Gene +15

Screening for Familial Dysautonomia in Israel: Evidence for Higher Carrier Rate among Polish Ashkenazi Jews

Ofer Lehavi, Orna Aizenstein, Dani Bercovich, +4

Genetic Testing

Genetic TestingGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +14

Large-scale population screening for spinal muscular atrophy: Clinical implications

Shay Ben‐Shachar, Avi Orr‐Urtreger, Eyal Bardugo, +2

Genetics in Medicine