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Prior information for population pharmacokinetic and pharmacokinetic/pharmacodynamic analysis: overview and guidance with a focus on the NONMEM PRIOR subroutine

Journal of pharmacokinetics and pharmacodynamics, 2020-10, Vol.47 (5), p.431-446

2020

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Can We Predict Individual Concentrations of Tacrolimus After Liver Transplantation? Application and Tweaking of a Published Population Pharmacokinetic Model in Clinical Practice

Therapeutic drug monitoring, 2021-08, Vol.43 (4), p.490-498

2021

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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

Human genomics, 2023-10, Vol.17 (1), p.1-14, Article 91

2023

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SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

Brain & development (Tokyo. 1979), 2015-08, Vol.37 (7), p.729-732

2015

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ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood – Potential target of treatment?

Brain & development (Tokyo. 1979), 2015-10, Vol.37 (9), p.907-910

2015

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Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation

Pediatric neurology, 2014-02, Vol.50 (2), p.177-180

2014

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Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses

Journal of the American Heart Association, 2023-02, Vol.12 (4), p.e028226-e028226

2023

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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Npj genomic medicine, 2022-12, Vol.7 (1), p.74-74, Article 74

2022

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ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

Brain & development (Tokyo. 1979), 2019-11, Vol.41 (10), p.883-887

2019

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

JIMD reports, 2021-07, Vol.60 (1), p.15-22

2021

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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Human genomics, 2020-09, Vol.14 (1), p.28-28, Article 28

2020

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Exome sequencing in paediatric patients with movement disorders

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.32-32, Article 32

2021

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Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study

Neuromuscular disorders : NMD, 2023-05, Vol.33 (5), p.371-381

2023

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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

JIMD reports, 2019-05, Vol.47 (1), p.23-29

2019

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Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

PloS one, 2015-05, Vol.10 (5), p.e0126446-e0126446

2015

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CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

Brain & development (Tokyo. 1979), 2015-04, Vol.37 (4), p.446-448

2015

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Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome

PloS one, 2012-07, Vol.7 (7), p.e41802-e41802

2012

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Direct actions of cortisol, thyroxine and growth hormone on IGF-I mRNA expression in sea bream hepatocytes

Comparative biochemistry and physiology. Part A, Molecular & integrative physiology, 2008-12, Vol.151 (4), p.705-710

2008

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High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

Epilepsia open, 2021-12, Vol.6 (4), p.685-693

2021

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Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

Epilepsia open, 2017-06, Vol.2 (2), p.236-243

2017

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The importance of the olfactory rosettes in maintaining pituitary prolactin and prolactin-releasing peptide levels during hyposmotic acclimation in silver sea bream (Sparus sarba)

Comparative biochemistry and physiology. Part A, Molecular & integrative physiology, 2012-04, Vol.161 (4), p.456-462

2012

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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Genetics in Medicine Open, 2024, Vol.2, p.101494, Article 101494

2024

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Prolactin-releasing peptide, a possible modulator of prolactin in the euryhaline silver sea bream ( Sparus sarba ): A molecular study

General and comparative endocrinology, 2008-09, Vol.158 (2), p.154-160

2008

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Effect of extracellular osmolality and ionic levels on pituitary prolactin release in euryhaline silver sea bream ( Sparus sarba )

General and comparative endocrinology, 2009-01, Vol.160 (1), p.67-75

2009

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Prior information for population pharmacokinetic and pharmacokinetic/pharmacodynamic analysis: overview and guidance with a focus on the NONMEM PRIOR subroutine

Can We Predict Individual Concentrations of Tacrolimus After Liver Transplantation? Application and Tweaking of a Published Population Pharmacokinetic Model in Clinical Practice

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood – Potential target of treatment?

Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation

Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Exome sequencing in paediatric patients with movement disorders

Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome

Direct actions of cortisol, thyroxine and growth hormone on IGF-I mRNA expression in sea bream hepatocytes

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

An Alzheimer Disease Challenge Model: 24-Hour Sleep Deprivation in Healthy Volunteers, Impact on Working Memory, and Reversal Effect of Pharmacological Intervention: A Randomized, Double-Blind, Placebo-Controlled, Crossover Study

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

The importance of the olfactory rosettes in maintaining pituitary prolactin and prolactin-releasing peptide levels during hyposmotic acclimation in silver sea bream (Sparus sarba)

P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Prolactin-releasing peptide, a possible modulator of prolactin in the euryhaline silver sea bream ( Sparus sarba ): A molecular study

Effect of extracellular osmolality and ionic levels on pituitary prolactin release in euryhaline silver sea bream ( Sparus sarba )

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