Here is a list of publications by RARE.Qc members over the past few weeks.
Articles:
- Roberta La Piana and Bernard Brais : Autosomal dominant spinocerebellar ataxia 27B (SCA27B)
- Gabriel Altit: Hypoxic-ischemic encephalopathy in neonates
- Michel Cayouette and Jean-François Côté : Myogenesis
- Guy A Rouleau: AKAP11 and bipolar disorder and schizophrenia
- Elena Netchiporouk: Quality of life in Chronic Urticaria
- Adam J Shapiro : Primary ciliary dyskinesia & ODAD4
- Adam J Shapiro : Primary ciliary dyskinesia & Noncoding variants
- Frank Rauch : Melnick-Needles Syndrome
- Frank Rauch: IMPACT Survey in Osteogenesis Imperfecta
- Maryam Oskoui : Spinal Muscular Atrophy & Home-Based Exergaming
- Robert K Koenekoop : Leber congenital amaurosis
- Elena Netchiporouk : Artificial Intelligence & Atopic Dermatitis
- Yannis Trakadis : Clinical genetics knowledge in Non-Geneticist Physicians
- Gabriel Altit: Congenital diaphragmatic hernia
- Sarah Lippé : EEG markers & Fragile X Syndrome
- Elie Haddad : Severe Combined Immune Deficiency Diagnosis
- Alexey V Pshezhetsky and Philippe M Campeau : Mucopolysaccharidosis Type IIIB