Results 191 to 200 of about 17,155 (256)

Neuroendoscopic single-nostril nasoseptal approach for tuberculum sellae meningiomas: technical description and preliminary clinical experience. [PDF]

Front Neurol
Xie J, Liu T, Gao L, Xia H, Song Z, Zhu H, Peng Y.   +6 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

Proboscis lateralis with contralateral antrochoanal polyp in an adult: a case report. [PDF]

Int J Surg Case Rep
Awan J, Akaash H, Masood S, Omarzai RG, Rehman A.   +4 more
europepmc   +1 more source

Atypical Presentation of Undiagnosed Crouzon's Syndrome With Pansinusitis, Orbital Cellulitis, and Altered Mentation Successfully Managed With Functional Endoscopic Sinus Surgery: A Case Report. [PDF]

Case Rep Crit Care
Issar P, Galav S, Goel R, Bhushan A.
europepmc   +1 more source

Bilateral nasolabial cysts: MRI findings in a rare case report. [PDF]

Radiol Case Rep
Gebresilassie MY, Midekso HD, Mehammed AH, Beshir HB, Midekso ND, Gidena EK.   +5 more
europepmc   +1 more source

Anesthetic Management for Cesarean Delivery in a Pregnant Patient With Spinal Muscular Atrophy Type 2: A Case Report. [PDF]

Case Rep Anesthesiol
Lopez Saenz JG, Bonilla Acosta C, Carvajal Villalobos J, Acuna Chinchilla S.   +3 more
europepmc   +1 more source

The Effect of Three-Dimensional Ocular Shape on Longitudinal Biometric Changes: A Six-Year Follow-Up Study. [PDF]

Transl Vis Sci Technol
Jiang F, Wu H, Xiao O, Guo X, He M, Li Z.   +5 more
europepmc   +1 more source

Non-syndromic craniosynostosis: contemporary concepts in biology, diagnosis, and distraction-based operative strategy. [PDF]

Arch Craniofac Surg
Baek W.
europepmc   +1 more source