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The relationship between gambling behaviour and gambling‐related harm: A data fusion approach using open banking data

Addiction (Abingdon, England), 2024-10, Vol.119 (10), p.1826-1835

2024

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Students' self‐report and observed learning orientations in blended university course design: How are they related to each other and to academic performance?

Journal of computer assisted learning, 2020-12, Vol.36 (6), p.969-980

2020

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Estimating the intervention effect in calibration substudies

Statistics in medicine, 2020-02, Vol.39 (3), p.239-251

2020

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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

Human genome variation, 2024-08, Vol.11 (1), p.34-4, Article 34

2024

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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

Human genome variation, 2024-08, Vol.11 (1), p.33-4

2024

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iMETHYL: an integrative database of human DNA methylation, gene expression, and genomic variation

Human genome variation, 2018-03, Vol.5 (1), p.18008-18008, Article 18008

2018

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Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Human genome variation, 2023-09, Vol.10 (1), p.25-2, Article 25

2023

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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

Human genome variation, 2024-08, Vol.11 (1), p.29-3

2024

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Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

Human genome variation, 2024-09, Vol.11 (1), p.36-3, Article 36

2024

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Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)

Human genome variation, 2021-02, Vol.8 (1), p.7-7, Article 7

2021

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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

Human genome variation, 2024-08, Vol.11 (1), p.35-4, Article 35

2024

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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

Human genome variation, 2024-08, Vol.11 (1), p.32-4

2024

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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

Human genome variation, 2024-08, Vol.11 (1), p.31-5

2024

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A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

Human genome variation, 2023-09, Vol.10 (1), p.26-26, Article 26

2023

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Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

Human genome variation, 2024-07, Vol.11 (1), p.28-4, Article 28

2024

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Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

Human genome variation, 2024-07, Vol.11 (1), p.27-3, Article 27

2024

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Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Human genome variation, 2023-08, Vol.10 (1), p.23-23, Article 23

2023

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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Human genome variation, 2024-03, Vol.11 (1), p.13-13, Article 13

2024

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Characteristic craniofacial defects associated with a novel USP9X truncation mutation

Human genome variation, 2024-05, Vol.11 (1), p.21-21, Article 21

2024

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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Human genome variation, 2024-05, Vol.11 (1), p.20-20, Article 20

2024

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X-linked intellectual disability related to a novel variant of KLHL15

Human genome variation, 2023-07, Vol.10 (1), p.21-21, Article 21

2023

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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

Human genome variation, 2024-02, Vol.11 (1), p.7-7, Article 7

2024

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Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis

Human genome variation, 2024-04, Vol.11 (1), p.19-19, Article 19

2024

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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Human genome variation, 2024-03, Vol.11 (1), p.16-16, Article 16

2024

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A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome

Human genome variation, 2024-03, Vol.11 (1), p.12-12, Article 12

2024

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The relationship between gambling behaviour and gambling‐related harm: A data fusion approach using open banking data

Students' self‐report and observed learning orientations in blended university course design: How are they related to each other and to academic performance?

Estimating the intervention effect in calibration substudies

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant

iMETHYL: an integrative database of human DNA methylation, gene expression, and genomic variation

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

X-linked intellectual disability related to a novel variant of KLHL15

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome

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