J Med Case Rep. 2024 Sep 1;18(1):401. doi: 10.1186/s13256-024-04742-6. ABSTRACT BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is …
Arthritis Res Ther. 2024 Aug 31;26(1):154. doi: 10.1186/s13075-024-03385-8. NO ABSTRACT PMID:39217348 | DOI:10.1186/s13075-024-03385-8
Am J Med Genet C Semin Med Genet. 2024 Aug 31:e32109. doi: 10.1002/ajmg.c.32109. Online ahead of print. ABSTRACT This piece narrates the journey of Maria …
Am J Med Genet C Semin Med Genet. 2024 Aug 31:e32105. doi: 10.1002/ajmg.c.32105. Online ahead of print. NO ABSTRACT PMID:39215585 | DOI:10.1002/ajmg.c.32105
J Infect Dis. 2024 Aug 31:jiae411. doi: 10.1093/infdis/jiae411. Online ahead of print. ABSTRACT Gullain-Barré syndrome (GBS) is an acute peripheral neuropathy often preceded by respiratory …
Allergy. 2024 Aug 31. doi: 10.1111/all.16305. Online ahead of print. NO ABSTRACT PMID:39215537 | DOI:10.1111/all.16305
FASEB J. 2024 Sep 15;38(17):e70021. doi: 10.1096/fj.202400198R. ABSTRACT Cone photoreceptor cyclic nucleotide-gated (CNG) channels play an essential role in phototransduction and cellular Ca2+ homeostasis. Mutations …
J Clin Endocrinol Metab. 2024 Aug 31:dgae603. doi: 10.1210/clinem/dgae603. Online ahead of print. ABSTRACT Catecholamine producing tumours of childhood include neuroblastic tumours, phaeochromocytoma and paraganglioma …
Am J Med Genet A. 2024 Aug 30:e63858. doi: 10.1002/ajmg.a.63858. Online ahead of print. NO ABSTRACT PMID:39215516 | DOI:10.1002/ajmg.a.63858
Pediatr Dev Pathol. 2024 Aug 31:10935266241272564. doi: 10.1177/10935266241272564. Online ahead of print. ABSTRACT BACKGROUND: Invasive fungal intestinal infections are rare in pediatric patients with limited …
