Results 101 to 110 of about 1,384 (167)

Retinitis pigmentosa and sensorineural deafness associated with a <i>de novo DHX16</i> mutation: case report. [PDF]

Front Genet
Wang L, Gao J, Sun M, Fan L, Wang S, Li X, Gu S, Han B.   +7 more
europepmc   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +1 more source

A case of central sleep apnea in an adult with agenesis of the corpus callosum. [PDF]

Respir Med Case Rep
Cabriada-Nuño V, Castro-Quintas S, Urrutia-Gajate A, Tijero-Merino B.   +3 more
europepmc   +1 more source

Spinal anesthesia for urgent cesarean section in a parturient with RYR1 mutation-associated malignant hyperthermia susceptibility: a case report. [PDF]

Matern Health Neonatol Perinatol
Abaalkhayl M.
europepmc   +1 more source

Pediatric endocrine disorders: a review of intracranial findings and appropriate imaging. [PDF]

Pediatr Radiol
Shatadal A, Vidmar KK, Allen DB, Chapman T.   +3 more
europepmc   +1 more source

Unilateral Retinitis Pigmentosa, Glial Tissue Abnormality, and Microphthalmia in a Young Female Patient: A Case Report. [PDF]

Cureus
Bivona L, Rama T, Wolfe GJ, Maris PJ, Lopez R.   +4 more
europepmc   +1 more source

Review Article: Overview of Clinical Genetics of Diabetes Mellitus. [PDF]

Genes (Basel)
Asamoah A, Ahima RS.
europepmc   +1 more source

Association Between Visceral Obesity Index and Diabetes: A Systematic Review and Meta-analysis.

J Clin Endocrinol Metab
Deng R, Chen W, Zhang Z, Zhang J, Wang Y, Sun B, Yin K, Cao J, Fan X, Zhang Y, Liu H, Fang J, Song J, Yu B, Mi J, Li X.   +15 more
europepmc   +1 more source

Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy. [PDF]

Diagnostics (Basel)
Esteban-Bueno G, Jiménez-Soto A, Fernández-Martínez JL, Fernández-Vilas E, Coca JR.   +4 more
europepmc   +1 more source