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Waardenburg Syndrome and hirschsprung Disease in a child: A case report
Journal of Pediatric Surgery Case ReportsIntroduction: Waardenburg Syndrome (WS) type IV or Waardenburg-Shah Syndrome (WSS) is a genetic disorder characterized by sensorineural hearing loss, pigmentary defects of the hair and skin, heterochromia of the eyes, and Hirschsprung Disease (HD). There
Rajesh Prasad Sah +5 more
doaj +1 more source
Principles Of Differentiation And Morphogenesis [PDF]
, 2016 Developmental biology is the science connecting genetics with anatomy, making sense out of both. The body builds itself from the instructions of the inherited DNA and the cytoplasmic system that interprets the DNA into genes and creates intracellular and
Gilbert, Scott F., Rice, R.
core +1 more source
Hearing loss: A review on molecular genetics and epidemiologic aspects [PDF]
, 2017 Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct.
Aghaei, Shahrzad. +5 more
core
Association of autism spectrum disorder with Waardenburg syndrome in a toddler. [PDF]
BMJ Case Rep, 2023 George FSA, Sam LE, Tanwar M, Wall L.
europepmc +1 more source
Revista de Ciencias Médicas de Pinar del Río, 2011 El síndrome de Waardenburg es una enfermedad infrecuente, autosómica y dominante que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial, sin embargo, se ha detectado en Sandino, Pinar del Río, Cuba, una familia con 26 ...
Fidel Castro Pérez +4 more
doaj
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants. [PDF]
Audiol Res, 2023 Bertani-Torres W +9 more
europepmc +1 more source
Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases [PDF]
, 2011 Lisa S. Andersson +8 more
core +1 more source