Results 91 to 100 of about 17,854 (158)

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent <i>RECQL4</i> variant. [PDF]

Front Pediatr
Armas Samaniego MI, Briones Vasquez M, Mariño Zambrano M, Romero VI, Melo K, Pozo-Palacios JC.   +5 more
europepmc   +1 more source

Diagnostic accuracy of screening tools for silent aspiration in patients with dysphagia: a systematic review and meta-analysis. [PDF]

Front Neurol
Sun WJ, Cui WY, Jiang Y, Liu WJ.
europepmc   +1 more source

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy. [PDF]

Am J Hum Genet
Morsy H, Kim H, Jang G, Zaki MS, Severino M, Abdelrazek IM, Hussien H, Self E, Albaradie RS, Bakur K, Firoozfar Z, Efthymiou S, Noureldeen MM, Nabil A, Alvi JR, Molavi F, Alavi S, Alibakhshi R, Topcu V, Mancilar H, Uctepe E, Yesilyurt A, Aldhalaan H, Showki Tous ES, Alhaddad B, Elbendary HM, Scardamaglia A, Murphy D, Yépez VA, Gagneur J, Omar TI, Abd Elmaksoud M, Vandrovocova J, Abdalla E, Reilly MM, Sultan T, Alkuraya FS, Gleeson JG, Um JW, Houlden H, Ko J, Maroofian R.   +41 more
europepmc   +1 more source

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival. [PDF]

Neurology
Savvidou A, Sofou K, Thunström S, Ygberg S, Eklund EA, Naess K, Kollberg G, Darin N.   +7 more
europepmc   +1 more source

Vitiligo developing in concurrence with frontal fibrosing alopecia. [PDF]

Proc (Bayl Univ Med Cent)
Cascella M, Conlon M, Lopez D, Volz H.
europepmc   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

J Med Case Rep
Ahmadkhani A, Taherifard E, Zoghi S, Jafari Khamirani H, Ahmadkhani M, Dastgheib SA.   +5 more
europepmc   +1 more source

A plastic surgery approach to Meige syndrome: Botulinum toxin for rebalancing facial dystonia and aesthetics - A case report. [PDF]

JPRAS Open
Long X.
europepmc   +1 more source

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome. [PDF]

Indian J Dermatol
Jangid NC, Poriya R.
europepmc   +1 more source

A framework for causal concept-based model explanations. [PDF]

Front Artif Intell
Bjøru AR, Lysnæs-Larsen J, Jørgensen O, Strümke I, Langseth H.   +4 more
europepmc   +1 more source