Results 321 to 330 of about 622,442 (395)

VNC-Dist: A machine learning-based semi-automated pipeline for quantification of neuronal position in the C. elegans ventral nerve cord. [PDF]

PLoS One
Saharkhiz S, Chan W, Kirezi CB, Petite M, Roenspies T, Perkins TJ, Colavita A.   +6 more
europepmc   +1 more source

The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants

Epilepsia Open, EarlyView.
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Lorenzo Muccioli, Francesca Bisulli, Raffaella Minardi, Maria Lucia Valentino, Micaela De Simone, Rodrigo Almeida Paroni, Edward Cesnik, Elisa Fallica, Luigi Bonan, Eleonora Pizzi, DEFEAT‐LD Study Group, Cosimo Altomare, Massimo Carella, Cinzia Costa, Giuseppe Damante, Lidia Di Vito, Giuseppe d’Orsi, Nicola Gambacorta, Paola Imbrici, Valentina Imperatore, Antonella Liantonio, Laura Licchetta, Raffaele Lodi, Paola Mantuano, Orazio Palumbo, Elena Pasini, Paolo Prontera, Luca Vignatelli, Gaetano Cantalupo, Laura Licchetta   +29 more
wiley   +1 more source

Laparoscopic resection with organ preservation of recurrent well-differentiated retroperitoneal liposarcoma in long-term disease-free survival: a case report. [PDF]

J Surg Case Rep
Nishimura S, Kurose Y, Doi R, Noso T, Miura N, Ishikawa W, Takakura N.   +6 more
europepmc   +1 more source

Hybrid argon plasma coagulation for chronic radiation-induced proctitis following pelvic chemoradiotherapy for cervical adenocarcinoma: a case report. [PDF]

Endoscopy
Hattori A, Ikenoyama Y, Fujiwara Y, Nakamura M, Hamada Y, Horiki N, Nakagawa H.   +6 more
europepmc   +1 more source

On Stricture of the Rectum [PDF]

BMJ
openaire   +3 more sources

Removal of an over-the-scope clip using balloon dilation. [PDF]

Endoscopy
Lambin T, Leblanc S, Napoleon B, Fumex F, Gincul R, Lepilliez V.   +5 more
europepmc   +1 more source

A Case of Solitary Fibrous Tumor in the Pelvis Completely Resected Using the Hugo RAS System. [PDF]

J Anus Rectum Colon
Toyota M, Miyo M, Okuya K, Noda A, Ishii M, Miura R, Okamoto K, Ito T, Akiyama Y, Ogawa T, Kimura A, Takemasa I.   +11 more
europepmc   +1 more source

Meckel's diverticulum as vaginal replacement for redo surgery in anorectal malformations. [PDF]

Urol Case Rep
Aihole JS.
europepmc   +1 more source

A Rare Case Report on Bowel Obstruction due to Seed Bezoar at the Rectum. [PDF]

Case Rep Gastrointest Med
Bhandari K, Qadri M, Chothe S, Pathak A, Pandey SJ, Paudel S.   +5 more
europepmc   +1 more source