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1. A deleterious recessive mutation in NUAK2 causes absence of brain in humans. (July 2017)

2. A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects. Issue 13 (7th July 2021)

3. A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects. Issue 5 (6th January 2021)

4. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Issue 1 (December 2016)

5. A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing. Issue 2 (18th January 2023)

6. Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult. (13th March 2022)

8. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman–Diamond syndrome?. Issue 9 (13th July 2020)

9. Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction. Issue 9 (8th September 2020)

10. Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome. Issue 6 (25th February 2022)