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Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

Neurology, 2021-03, Vol.96 (13), p.e1783

2021

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Journal of medical genetics, 2024-03, Vol.61 (3), p.232-238

2024

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Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1763-1772

2015

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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.386-391

2014

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Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case

Clinical dysmorphology, 2012-07, Vol.21 (3), p.152-154

2012

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Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype

Clinical dysmorphology, 2011-10, Vol.20 (4), p.210-213

2011

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Human mutation, 2016-02, Vol.37 (2), p.148-154

2016

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A Re-examination of Two Linear Pentapeptides Claimed To Be Serine Protease Mimics

Journal of the American Chemical Society, 1996-09, Vol.118 (37), p.8787-8790

1996

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Poly(ethylene glycol) (PEG) as a reagent support: the preparation and utility of a PEG–triarylphosphine conjugate in liquid-phase organic synthesis (LPOS)

Chemical communications (Cambridge, England), 1997 (8), p.759-760

1997

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Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

The European journal of psychiatry, 2009-03, Vol.23 (1), p.31-36

2009

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High-throughput synthesis and direct screening for the discovery of novel hydrolytic metal complexes

Bioorganic & medicinal chemistry letters, 1998-05, Vol.8 (10), p.1221-1224

1998

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Liquid-phase combinatorial synthesis: in search of small-molecule enzyme mimics

Molecular diversity, 1996-10, Vol.2 (1-2), p.89-96

1996

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Some observations relating to the use of 1-aryl-4-alkoxypiperidin-4-yl groups for the protection of the 2′-hydroxy functions in the chemical synthesis of oligoribonucleotides

Perkin 1 : an international journal of organic and bio-organic chemistry, 2000 (2), p.165-176

2000

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ChemInform Abstract: Some Observations Relating to the Use of 1-Aryl-4-alkoxypiperidin-4-yl Groups for the Protection of the 2′-Hydroxy Functions in the Chemical Synthesis of Oligoribonucleotides

ChemInform, 2000-04, Vol.31 (15), p.no-no

2000

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Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Journal of medical genetics, 2018-09, Vol.55 (9), p.571-577

2018

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Genetics in medicine, 2020-03, Vol.22 (3), p.524-537

2020

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

PLoS genetics, 2017-03, Vol.13 (3), p.e1006683

2017

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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

BMC pediatrics, 2024-01, Vol.24 (1), p.37-37, Article 37

2024

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Intrafamilial variability of clinical features in distal arthrogryposis type 2B

Clinical dysmorphology, 2019-01, Vol.28 (1), p.35-37

2019

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Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn

Clinical dysmorphology, 2017-01, Vol.26 (1), p.50-57

2017

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Widening of the genetic and clinical spectrum of Lamb–Shaffersyndrome, a neurodevelopmental disorder due to SOX5haploinsufficiency

Genetics in medicine, 2020-03, Vol.22 (3), p.524-537

2020

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Hyperkalaemic ascending paralysis

Journal of the Royal Society of Medicine, 2004-07, Vol.97 (7), p.330-331

2004

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Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case

Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

A Re-examination of Two Linear Pentapeptides Claimed To Be Serine Protease Mimics

Poly(ethylene glycol) (PEG) as a reagent support: the preparation and utility of a PEG–triarylphosphine conjugate in liquid-phase organic synthesis (LPOS)

Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome

High-throughput synthesis and direct screening for the discovery of novel hydrolytic metal complexes

Liquid-phase combinatorial synthesis: in search of small-molecule enzyme mimics

Some observations relating to the use of 1-aryl-4-alkoxypiperidin-4-yl groups for the protection of the 2′-hydroxy functions in the chemical synthesis of oligoribonucleotides

ChemInform Abstract: Some Observations Relating to the Use of 1-Aryl-4-alkoxypiperidin-4-yl Groups for the Protection of the 2′-Hydroxy Functions in the Chemical Synthesis of Oligoribonucleotides

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Intrafamilial variability of clinical features in distal arthrogryposis type 2B

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn

Widening of the genetic and clinical spectrum of Lamb–Shaffersyndrome, a neurodevelopmental disorder due to SOX5haploinsufficiency

Hyperkalaemic ascending paralysis

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