Yael Shinar

Ramat Gan, TA, Israel

Last Updated: 09/26/2026

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Found 24 publications

LARON SYNDROME. (Growth Hormone Insensitivity) Geographical distribution and relationship to the genetic defects in the growth hormone receptor gene.

LARON SYNDROME. (Growth Hormone Insensitivity) Geographical distribution and relationship to the genetic defects in the growth hormone receptor gene.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 22, 2026

Prophylactic colchicine for familial Mediterranean fever: response rates revisited.

Prophylactic colchicine for familial Mediterranean fever: response rates revisited.

Journal: Scandinavian journal of rheumatology

Published: June 05, 2025

Determining the origin of different variants associated with familial mediterranean fever by machine-learning.

Determining the origin of different variants associated with familial mediterranean fever by machine-learning.

Journal: Scientific reports

Published: February 25, 2022

Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever.

Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever.

Journal: Rheumatology (Oxford, England)

Published: July 25, 2020

Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.

Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.

Journal: Human mutation

Published: January 02, 2020

A CLINICAL DISCUSSION: FEVER OF UNKNOWN ORIGIN IN THE MODERN ERA - MORE QUESTIONS THAN ANSWERS

A CLINICAL DISCUSSION: FEVER OF UNKNOWN ORIGIN IN THE MODERN ERA - MORE QUESTIONS THAN ANSWERS

Journal: Harefuah

Published: December 12, 2019

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Journal: Clinical chemistry

Published: September 26, 2019

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

Journal: European journal of human genetics : EJHG

Published: February 21, 2019

Classification criteria for autoinflammatory recurrent fevers.

Classification criteria for autoinflammatory recurrent fevers.

Journal: Annals of the rheumatic diseases

Published: January 09, 2019

Reply.

Reply.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: March 24, 2018

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Journal: Journal of medical genetics

Published: December 15, 2017

Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS).

Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS).

Journal: The Israel Medical Association journal : IMAJ

Published: October 04, 2017

Showing 1-12 of 24

Last Updated: 09/26/2026