Tag: novo

Pediatrics

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability

Newsemia
MED13L-related intellectual disability is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. Both the...
Biology

Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues

Newsemia
by Barbara Arbeithuber, James Hester, Marzia A. Cremona, Nicholas Stoler, Arslan Zaidi, Bonnie Higgins, Kate Anthony, Francesca Chiaromonte, Francisco J. Diaz, Kateryna D. Makova Mutations...
Latest News

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

Newsemia
Efthymiou, S; Salpietro, V; Bettencourt, C; Houlden, H; (2018) Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A. Journal of...
Latest News

Patient Safety Movement Foundation nomeia novo presidente do conselho e anuncia determinação para atingir a meta de reduzir a zero as mortes evitáveis de pacientes até 2030

Newsemia
IRVINE, Califórnia–(BUSINESS WIRE)–A Patient Safety Movement Foundation (PSMF) — organização global sem fins lucrativos dedicada a unificar todos os envolvidos no ecossistema de saúde, identificar...
Latest News

Riassunto: HighRes Biosolutions e Novo Nordisk si alleano per trasformare la scoperta di farmaci nel laboratorio automatizzato del futuro

Newsemia
BEVERLY, Mass.–(BUSINESS WIRE)–HighRes Biosolutions e Novo Nordisk A/S hanno annunciato oggi che collaboreranno alla progettazione di una piattaforma robotica avanzata per la progettazione e la...
Latest News

HighRes Biosolutions et Novo Nordisk s’associent pour métamorphoser la découverte de médicaments dans un laboratoire automatisé du futur

Newsemia
BEVERLY, Massachusetts–(BUSINESS WIRE)–HighRes Biosolutions et Novo Nordisk A/S ont annoncé aujourd’hui qu’ils s’associaient pour concevoir une plateforme robotique de pointe en matière d’ingénierie et de...

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