Results 231 to 240 of about 52,151 (314)

Upper eyelid predominance of meibomian gland dysfunction in postmenopausal women with primary acquired nasolacrimal duct obstruction. [PDF]

BMC Ophthalmol
Jin H, Chen X, Liu Y.
europepmc   +1 more source

Giant palpebral hidrocystoma. [PDF]

Pan Afr Med J
Zemmez Y, Hjira N.
europepmc   +1 more source

Squamous Cell Carcinoma of the Skin in a Teenager with Fanconi Anemia: A Challenging Treatment. [PDF]

Int J Mol Sci
Zelenova E, Belysheva T, Orlova K, Grigorenko V, Semenova V, Sharapova E, Vishnevskaya Y, Samoylenko I, Nasedkina T, Valiev T, Polyakov V, Varfolomeeva S.   +11 more
europepmc   +1 more source

The Movements of the Eyelids [PDF]

Journal of the Royal Society of Medicine, 1879
openaire   +2 more sources

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Fatty Acid Synthase as a Potential Metabolic Vulnerability in Ocular Adnexal Sebaceous Carcinoma. [PDF]

Cancers (Basel)
Berlied A, Boyack I, Vieira A, Gonzalez-Perez M, Kumar V, Peterson C.   +5 more
europepmc   +1 more source

Add‐on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss‐of‐function γ‐aminobutyric acid type A receptor variants

Epilepsia, EarlyView.
Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen, Vivian W. Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Møller   +15 more
wiley   +1 more source

<i>Demodex</i> blepharitis treatment with a selenium sulfide-containing ointment: a case report. [PDF]

Ther Adv Ophthalmol
Alster Y, Rafaeli O, Bosworth C.
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. [PDF]

Indian J Ophthalmol
Premkumar S, Baskaran S, Muralikrishnan N, Sundar SS, Periasamy S, Puthuran GV.   +5 more
europepmc   +1 more source