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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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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

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

2011

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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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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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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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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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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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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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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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Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

BMC medical genomics, 2022-04, Vol.15 (1), p.98-98, Article 98

2022

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

Genetics in Medicine Open, 2024-09, p.101893, Article 101893

2024

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RETRACTED: Ataxie spinocérébelleuse de type 31 (SCA 31) : revue de la littérature à la lumière du premier diagnostic chez un patient caucasien ; un phénotype différent chez les patients non-japonais ?

Revue neurologique, 2022-04, Vol.178, p.S46

2022

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RETRACTED: Ataxie spinocérébelleuse de type 31 (SCA 31) : revue de la littérature à la lumière du premier diagnostic chez un patient caucasien ; un phénotype différent chez les patients non-japonais ?

Revue neurologique, 2022-04, Vol.178, p.S46-S46

2022

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TEMPORARY REMOVAL: Ataxie spinocérébelleuse de type 31 (SCA 31) : revue de la littérature à la lumière du premier diagnostic chez un patient caucasien ; un phénotype différent chez les patients non-japonais ?

Revue neurologique, 2022-04, Vol.178S, p.S46-S46

2022

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Tunisian DREEM: Nursing Students’ Perception of the Learning Environment

Open journal of nursing, 2022, Vol.12 (11), p.745-757

2022

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Osteogenesis imperfecta

Pediatric endocrinology reviews : PER, 2013-06, Vol.10 Suppl 2, p.397

2013

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Poster 147 Muscle Investigation in Hypophosphatemic Rickets: A Jumping Mechanography and pQCT Study

Archives of physical medicine and rehabilitation, 2012-10, Vol.93 (10), p.e55-e56

2012

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Bone health in mucopolysaccharidosis type IVA (Morquio syndrome)

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S78-S78

2014

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Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant

European journal of medical genetics, 2014-11, Vol.57 (11), p.617-620

2014

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

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

2024

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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, Vol.191 (4), p.1065-1069

2023

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

Spinocerebellar ataxia type 31: A clinical and radiological literature review

Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

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

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

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

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

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

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

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

Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

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

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

RETRACTED: Ataxie spinocérébelleuse de type 31 (SCA 31) : revue de la littérature à la lumière du premier diagnostic chez un patient caucasien ; un phénotype différent chez les patients non-japonais ?

RETRACTED: Ataxie spinocérébelleuse de type 31 (SCA 31) : revue de la littérature à la lumière du premier diagnostic chez un patient caucasien ; un phénotype différent chez les patients non-japonais ?

TEMPORARY REMOVAL: Ataxie spinocérébelleuse de type 31 (SCA 31) : revue de la littérature à la lumière du premier diagnostic chez un patient caucasien ; un phénotype différent chez les patients non-japonais ?

Tunisian DREEM: Nursing Students’ Perception of the Learning Environment

Osteogenesis imperfecta

Poster 147 Muscle Investigation in Hypophosphatemic Rickets: A Jumping Mechanography and pQCT Study

Bone health in mucopolysaccharidosis type IVA (Morquio syndrome)

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant

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

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

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