Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Avraham Shaag, Ann Saada, Itai Berger, +4

American Journal of Medical Genetics

Standardization of a Developmental Milestone Scale Using Data From Children in Israel

Tamar Sudry, Deena R. Zimmerman, Hadar Yardeni, +16

JAMA Network Open

Arithmetic skills in kindergarten children with developmental language disorders

Orly Manor, Ruth S. Shalev, Adina Joseph, +1

European Journal of Paediatric Neurology

Child LanguageLanguage DevelopmentLanguage AcquisitionDevelopmental Language DisorderEducation +8

Hallucinations during methylphenidate therapy

Varda Gross‐Tsur, Adina Joseph, Ruth S. Shalev

Neurology

NeuropsychologyPsychotropic MedicationPsychopharmacologyNeuropsychiatryMethylphenidate Therapy +17

3‐METHYLGLUTACONIC ACIDURIA IN THE IRAQI‐JEWISH “OPTIC ATROPHY PLUS‘ (COSTEFF) SYNDROME

Orly Elpeleg, Hanan Costeff, Adina Joseph, +3

Developmental Medicine & Child Neurology

UrologyOcular DiseaseOphthalmologyMedicineIga Glomerulonephritis +11

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Orly Elpeleg, Avraham Shaag, Joseph Z. Glustein, +3

Human Mutation

Aldehyde DehydrogenaseBiochemistryMitochondrial FunctionNatural SciencesGenetics +10

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

Orly Elpeleg, Adina Joseph, David Branski, +5

The Journal of Pediatrics

Energy MetabolismBiochemistryRecurrent Metabolic DecompensationPhysiologyMetabolic Regulation +4

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

Yair Anikster, Avraham Shaag, Adina Joseph, +4

PubMed

Anaesthetic management of a patient with Leigh’s syndrome

Ze’ev Shenkman, Igor Krichevski, Orly N. Elpeleg, +2

Canadian Journal of Anesthesia/Journal canadien d anesthésie

MedicineAnesthesia PracticeAnaesthetic ManagementAnesthesiaPerioperative Medicine +1

Mutation Analysis of the MCM Gene in Israeli Patients with mut0 Disease

Itai Berger, Avraham Shaag, Yair Anikster, +4

Molecular Genetics and Metabolism

Mendelian DisorderGenetic DisorderMedicineGeneticsIsraeli Patients +8