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Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1

Journal of bone and mineral research, 2013-09, Vol.28 (9), p.2001-2007

2013

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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Journal of Osteoporosis, 2011-01, Vol.2011 (2011), p.182-190

2011

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Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations

Journal of bone and mineral research, 2012-03, Vol.27 (3), p.713-718

2012

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Expanding the phenotypic spectrum for CDK8‐related disease: A case report

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63537-n/a

2024

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Spinocerebellar ataxia type 31: A clinical and radiological literature review

Journal of the neurological sciences, 2023-01, Vol.444, p.120527-120527, Article 120527

2023

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Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.965-969

2022

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A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Journal of medical genetics, 2023-02, Vol.60 (2), p.134-136

2023

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Abnormalities in Muscle Density and Muscle Function in Hypophosphatemic Rickets

The journal of clinical endocrinology and metabolism, 2012-08, Vol.97 (8), p.E1492-E1498

2012

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New p-type Al-substituted SrSnO3 perovskites for TCO applications?

Chemical communications (Cambridge, England), 2020-02, Vol.56 (17), p.2566-2569

2020

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A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok‐Campeau syndrome?

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1065-1069

2023

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Dividend policy and crisis: Exploring the interplay between performance and financial constraints in the French context

Heliyon, 2023-10, Vol.9 (10), p.e20586-e20586, Article e20586

2023

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Nanofluid bioconvective transport for non-Newtonian material in bidirectional oscillating regime with nonlinear radiation and external heat source: Applications to storage and renewable energy

Journal of energy storage, 2023-09, Vol.68, p.107839, Article 107839

2023

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Mechanical Recycling and Its Effects on the Physical and Mechanical Properties of Polyamides

Polymers, 2023-11, Vol.15 (23), p.4561

2023

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Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report

Frontiers in genetics, 2024-02, Vol.15, p.1346044

2024

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Multi-constraints self-adaptation for reconfigurable multimedia embedded systems

The Journal of supercomputing, 2022-05, Vol.78 (7), p.9038-9064

2022

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P692: Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8

Genetics in Medicine Open, 2024, Vol.2, p.101596, Article 101596

2024

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Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1211-1215

2021

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High-efficiency perovskite photovoltaic system performance by molecular dynamics method: Optimizing electron transport thicknesses, hole transport, and anti-reflector layers of the sustainable energy materials

Engineering analysis with boundary elements, 2023-05, Vol.150, p.120-126

2023

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Tomographic prognostic factors for visual improvement after pars plana vitrectomy for epiretinal membrane

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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P559: A novel alternate service delivery model for genetic counseling in a rural population: The New Brunswick experience

Genetics in Medicine Open, 2024, Vol.2, p.101458, Article 101458

2024

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P113: Double trouble: Unraveling the clinical challenges of dual pathogenic variant carriers in hereditary cancer predisposition genes

Genetics in Medicine Open, 2024, Vol.2, p.100994, Article 100994

2024

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Hydrocarbonoclastic bacteria isolated from petroleum contaminated sites in Tunisia: isolation, identification and characterization of the biotechnological potential

New biotechnology, 2013-09, Vol.30 (6), p.723-733

2013

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Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

American journal of human genetics, 2013-02, Vol.92 (2), p.252-258

2013

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A pigmentary manifestation associated with PPP2R5D-related neurodevelopmental disorder: a case report and review of literature

Bulletin of the National Research Centre, 2023-12, Vol.47 (1), p.106-10, Article 106

2023

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Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome

European journal of medical genetics, 2023-08, Vol.66 (8), p.104798-104798, Article 104798

2023

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Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1

Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations

Expanding the phenotypic spectrum for CDK8‐related disease: A case report

Spinocerebellar ataxia type 31: A clinical and radiological literature review

Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

Abnormalities in Muscle Density and Muscle Function in Hypophosphatemic Rickets

New p-type Al-substituted SrSnO3 perovskites for TCO applications?

A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok‐Campeau syndrome?

Dividend policy and crisis: Exploring the interplay between performance and financial constraints in the French context

Nanofluid bioconvective transport for non-Newtonian material in bidirectional oscillating regime with nonlinear radiation and external heat source: Applications to storage and renewable energy

Mechanical Recycling and Its Effects on the Physical and Mechanical Properties of Polyamides

Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report

Multi-constraints self-adaptation for reconfigurable multimedia embedded systems

P692: Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8

Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family

High-efficiency perovskite photovoltaic system performance by molecular dynamics method: Optimizing electron transport thicknesses, hole transport, and anti-reflector layers of the sustainable energy materials

Tomographic prognostic factors for visual improvement after pars plana vitrectomy for epiretinal membrane

P559: A novel alternate service delivery model for genetic counseling in a rural population: The New Brunswick experience

P113: Double trouble: Unraveling the clinical challenges of dual pathogenic variant carriers in hereditary cancer predisposition genes

Hydrocarbonoclastic bacteria isolated from petroleum contaminated sites in Tunisia: isolation, identification and characterization of the biotechnological potential

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

A pigmentary manifestation associated with PPP2R5D-related neurodevelopmental disorder: a case report and review of literature

Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome

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