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Your search keyword '"Ng AYJ"' showing total 15 results

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15 results on '"Ng AYJ"'

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1. Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.

2. Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

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3. Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.

4. Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

5. Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study.

6. A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

7. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

8. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

9. Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

10. Whole exome sequencing identifies recessive germline mutations in FAM160A1 in familial NK/T cell lymphoma.

11. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

12. Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

13. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

14. Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells.

15. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.