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Molecular Genetics & Genomic Medicine|February 13, 2020
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiencyOrna Staretz-Chacham, Lars Schlotawa, Ohad Wormser, et al.Human Mutation|January 15, 2013
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfectaMichael Volodarsky, Barak Markus, Idan Cohen, et al.Journal of Child Neurology|December 11, 2020
Magnetic Resonance Spectroscopy in Children With Developmental Delay: Time to Look Beyond Conventional Magnetic Resonance Imaging (MRI)Nikhil Rajvanshi, Rahul Bhakat, Sudhir Saxena, et al.Biorxiv : the Preprint Server for Biology|June 3, 2024
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Eyal Paz, Sahil Jain, Irit Gottfried, et al.Elife|December 16, 2024
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Eyal Paz, Sahil Jain, Irit Gottfried, et al.Frontiers in Pediatrics|December 16, 2021
Predictors of Developmental and Respiratory Outcomes Among Preterm Infants With Bronchopulmonary DysplasiaIris Morag, Efrat Barkai, Yaara Wazana, et al.Journal of Family Medicine and Primary Care|May 27, 2021
Rare but not Abdicated: Status of Haemophilia in foothills of Himalaya, Uttarakhand: A cross-sectional studyVyas K Rathaur, N K V Vigneshwar, Ayesha Imran, et al.Journal of Clinical Medicine|June 12, 2026
Growth Patterns in MPS IVA and MPS IIIA: A Longitudinal Single-Center StudyLior Carmon, Majd Nassar, Daphna Idan, et al.The Journals of Gerontology. Series B, Psychological Sciences and Social Sciences|October 23, 2021
Shorter Telomeres Among Individuals With Physical Disability: The Moderating Role of Perceived StressYael Lahav, Sharon Avidor, David Levy, et al.Physical Review Letters|March 16, 2007
Third and fourth optical transitions in semiconducting carbon nanotubesPaulo T Araujo, Stephen K Doorn, Svetlana Kilina, et al.Pageof 14