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The Journal of Clinical Investigation|September 30, 2025
Carboxypeptidase D deficiency causes hearing loss amenable to treatmentMemoona Ramzan, Natalie Ortiz-Vega, Mohammad Faraz Zafeer, et al.
European Journal of Haematology|March 31, 2024
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysisEsra Isik, Yesim Aydinok, Canan Albayrak, et al.
Clinical Endocrinology|May 4, 2018
Renal complications of lipodystrophy: A closer look at the natural history of kidney diseaseBaris Akinci, Sadiye Mehtat Unlu, Ali Celik, et al.
Diabetes, Obesity & Metabolism|March 22, 2023
Clinical features of generalized lipodystrophy in Turkey: A cohort analysisIlgin Yildirim Simsir, Beyhan Tuysuz, Mehmet Nuri Ozbek, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 17, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implicationsSanem Yilmaz, Esra Serdaroglu, Erdem Simsek, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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