Orit Lobel
Jerusalem, JM, Israel
Last Updated: 09/26/2026
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Found 8 publications
Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic Diabetes.
Journal: The Journal of clinical endocrinology and metabolism
Published: April 19, 2026
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Journal: Orphanet journal of rare diseases
Published: August 24, 2024
Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis.
Journal: European journal of endocrinology
Published: January 19, 2023
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Journal: Molecular genetics and genomics : MGG
Published: September 19, 2021
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Journal: Cold Spring Harbor molecular case studies
Published: June 10, 2020
Essential Role of BRCA2 in Ovarian Development and Function.
Journal: The New England journal of medicine
Published: September 13, 2018
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.
Journal: Journal of medical genetics
Published: November 26, 2014
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Last Updated: 09/26/2026