Results 101 to 110 of about 520 (140)

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. [PDF]

J Med Genet, 1990
Hawkins SA, Nevin NC, Harding AE.
europepmc   +1 more source

Indications for home mechanical ventilation in children: changes over four decades. [PDF]

Eur J Pediatr
Verweij van den Oudenrijn L, Gaytant M, Arts L, Wijkstra P, van der Pol WL, Veldhoen E.   +5 more
europepmc   +1 more source

Management Targeted Genetic Evaluation of an Idiopathic Neuropathy Cohort Through ATTRv Amyloidosis Screening. [PDF]

HCA Healthc J Med
Fisher KA, Diaz S, Gelblum J, Brock C, Suresh N, Towne M.   +5 more
europepmc   +1 more source

Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series. [PDF]

J Int Adv Otol
Yuan F, Chen Z, Zhang Y, Wang Y, Xie J, Liu Y.   +5 more
europepmc   +1 more source

From suspicion to diagnosis: exploration strategy for suspected amyotrophic lateral sclerosis. [PDF]

Ann Med
Garnier M, Camdessanché JP, Cassereau J, Codron P.   +3 more
europepmc   +1 more source

Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier. [PDF]

Clin Pharmacol Ther
Yee SW, Wang J, Giacomini KM.
europepmc   +1 more source

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability. [PDF]

Int J Neonatal Screen
Veldman A, Sikkema-Raddatz B, Derks TGJ, van Karnebeek CDM, Kiewiet MBG, Mulder MF, Nelen MR, Rubio-Gozalbo ME, Sinke RJ, de Sain-van der Velden MG, Visser G, de Vries MC, Westra D, Williams M, Wevers RA, Heiner-Fokkema MR, van Spronsen FJ.   +16 more
europepmc   +1 more source

Revitalising Riboflavin: Unveiling Its Timeless Significance in Human Physiology and Health. [PDF]

Foods
Aragão MÂ, Pires L, Santos-Buelga C, Barros L, Calhelha RC.   +4 more
europepmc   +1 more source

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study. [PDF]

Orphanet J Rare Dis
Jaeger B, Hoytema van Konijnenburg E, Groenveld MA, Langeveld M, Wolf NI, Bosch AM.   +5 more
europepmc   +1 more source