(PMID: 22264561) Lim YM … Kim KK (Neuromuscular disorders : NMD 2012) 2 3 4 60 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. [genecards.org]

The four most common mutations reported to cause FMF and one polymorphism/mutation account for approximately 85% of abnormal alleles in Armenian, Sephardic Jewish, Arabic, or Turkish populations. [chginc.org]

Moss' heart disease in infants, children, and adolescents, 4th ed. Baltimore: Williams & Wilkins, 1989:530. ‎ [books.google.com]

He co-edited the 6th, 7th, and 8th editions of Moss and Adams’ “Heart Disease in Infants, Children, and Adolescents”. He authored the textbooks “Fundamentals of Pediatric Cardiology” and “Interpretation of Intracardiac Electrograms”. [books.google.ro]

Global genetic analysis in mice unveils central role for cilia in congenital heart disease Y Li, NT Klena, GC Gabriel, X Liu, AJ Kim, K Lemke, Y Chen, B Chatterjee, ... [scholar.google.com]

Secondary features include diabetes mellitus, hypertension and congenital heart disease. [genecards.org]

Four chapters devoted to childhood hypertension offer you insights into an increasingly prevalent condition among pediatric patients so you can treat them more effectively. [books.google.com]

Pulmonary arterial hypertension (PAH) Pulmonary arterial hypertension (PAH) means that the blood is travelling through the lungs at a higher pressure than normal. [gosh.nhs.uk]

Secondary features include diabetes mellitus, hypertension and congenital heart disease. [genecards.org]

If CHF is diagnosed, specific follow-up should be planned to manage possible complications, including portal hypertension and esophageal varices. Prognosis Soon after birth, prognosis is related to the extent and severity of breathing dysregulation. [ojrd.biomedcentral.com]

Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.ro]

We have some great discussion threads going and are excited to move forward with this brainstorming! [mosaic.ucsf.edu]

[…] uniparental disomy; imprinting defects; UBE3A mutations Angelman syndrome is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia, and unique behavior that includes frequent laughing, smiling, and excitability [chginc.org]

This authoritative resource provides an in-depth look at basic neuroscience, critical care and trauma, cerebrovascular diseases, movement disorders, neuromuscular diseases, psychiatry, behavioral neurology, clinical neurophysiology, headaches and pain [books.google.com]

Vermian agenesis without posterior fossa cyst. Pediatr Radiol 1994; 24:543-546.[Medline] 19. Habre W, Sims C, D'Souze M. Anaesthetic management of children with Joubert syndrome. Paediatric Anaesth 1997; 7:251-253. [ispub.com]