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Including non-dietary sources into an exposure assessment of the European Food Safety Authority: The challenge of multi-sector chemicals such as Bisphenol A

Regulatory toxicology and pharmacology, 2017-04, Vol.85, p.70-78

2017

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Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

Chromosoma, 2011-12, Vol.120 (6), p.621-632

2011

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2739-2745

2011

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Quantitative Differentiation Between Healthy and Disordered Brain Matter in Patients with Neurofibromatosis Type I Using Diffusion Tensor Imaging

American journal of neuroradiology : AJNR, 2008-04, Vol.29 (4), p.816-822

2008

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New stable isotope method to measure protein digestibility and response to pancreatic enzyme intake in cystic fibrosis

Clinical nutrition (Edinburgh, Scotland), 2014-12, Vol.33 (6), p.1024-1032

2014

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Use of body mass index percentile to identify fat-free mass depletion in children with cystic fibrosis

Clinical nutrition (Edinburgh, Scotland), 2012-12, Vol.31 (6), p.927-933

2012

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Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements

European journal of medical genetics, 2008-03, Vol.51 (2), p.93-105

2008

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Granulosa cell tumors of the ovary: The clinical value of serum inhibin A and B levels in a large single center cohort

Gynecologic oncology, 2007-05, Vol.105 (2), p.365-372

2007

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Role of biokinetics in risk assessment of drugs and chemicals in children

Regulatory toxicology and pharmacology, 2004-06, Vol.39 (3), p.282-309

2004

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Risk assessment of chemicals and pharmaceuticals in the pediatric population: A workshop report

Regulatory toxicology and pharmacology, 2005-06, Vol.42 (1), p.83-95

2005

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Increased whole body hydroxyproline production as assessed by a new stable isotope technique is associated with hip and spine bone mineral loss in cystic fibrosis

Clinical nutrition (Edinburgh, Scotland), 2014-12, Vol.33 (6), p.1117-1121

2014

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24-Hour protein, arginine and citrulline metabolism in fed critically ill children – A stable isotope tracer study

Clinical nutrition (Edinburgh, Scotland), 2017-06, Vol.36 (3), p.876-887

2017

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Stimulated Nitric Oxide Production and Arginine Deficiency in Children with Cystic Fibrosis with Nutritional Failure

The Journal of pediatrics, 2013-08, Vol.163 (2), p.369-375.e1

2013

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Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

Journal of medical genetics, 1995-10, Vol.32 (10), p.792-795

1995

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Dietary essential amino acids are highly anabolic in pediatric patients with cystic fibrosis

Journal of cystic fibrosis, 2013-09, Vol.12 (5), p.445-453

2013

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Characterization of a chromosome 8‐derived minute marker chromosome using microdissection and FISH in a boy with growth retardation

American journal of medical genetics, 2003-04, Vol.118A (3), p.274-278

2003

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Deletion of the long arm of chromosome 6: two new patients and literature review

Clinical genetics, 1996-09, Vol.50 (3), p.138-144

1996

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Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12)

Genetic counseling, 2004, Vol.15 (1), p.73

2004

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Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH

Genetic counseling, 2005, Vol.16 (3), p.277

2005

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Application of micro-FISH to delineate deletions

Cytogenetic and genome research, 1996-01, Vol.75 (2-3), p.167-171

1996

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Marker chromosome identification by micro-FISH

Clinical genetics, 1996-05, Vol.49 (5), p.242-248

1996

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Mild phenotype in interstitial 4p deletion: another patient and review of the literature

Genetic counseling, 1997, Vol.8 (1), p.13

1997

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Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish

Genetic counseling, 1999, Vol.10 (2), p.123

1999

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Prolonged electro-retinal response suppression (PERRS) in patients with stationary subnormal visual acuity and photophobia

Documenta ophthalmologica, 1991-01, Vol.78 (3-4), p.245-254

1991

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De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH

American journal of medical genetics, 2001-04, Vol.100 (1), p.56-61

2001

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Including non-dietary sources into an exposure assessment of the European Food Safety Authority: The challenge of multi-sector chemicals such as Bisphenol A

Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

Quantitative Differentiation Between Healthy and Disordered Brain Matter in Patients with Neurofibromatosis Type I Using Diffusion Tensor Imaging

New stable isotope method to measure protein digestibility and response to pancreatic enzyme intake in cystic fibrosis

Use of body mass index percentile to identify fat-free mass depletion in children with cystic fibrosis

Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements

Granulosa cell tumors of the ovary: The clinical value of serum inhibin A and B levels in a large single center cohort

Role of biokinetics in risk assessment of drugs and chemicals in children

Risk assessment of chemicals and pharmaceuticals in the pediatric population: A workshop report

Increased whole body hydroxyproline production as assessed by a new stable isotope technique is associated with hip and spine bone mineral loss in cystic fibrosis

24-Hour protein, arginine and citrulline metabolism in fed critically ill children – A stable isotope tracer study

Stimulated Nitric Oxide Production and Arginine Deficiency in Children with Cystic Fibrosis with Nutritional Failure

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

Dietary essential amino acids are highly anabolic in pediatric patients with cystic fibrosis

Characterization of a chromosome 8‐derived minute marker chromosome using microdissection and FISH in a boy with growth retardation

Deletion of the long arm of chromosome 6: two new patients and literature review

Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12)

Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH

Application of micro-FISH to delineate deletions

Marker chromosome identification by micro-FISH

Mild phenotype in interstitial 4p deletion: another patient and review of the literature

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish

Prolonged electro-retinal response suppression (PERRS) in patients with stationary subnormal visual acuity and photophobia

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH

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