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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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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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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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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Journal of Osteoporosis, 2011-01, Vol.2011, p.540178-9

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

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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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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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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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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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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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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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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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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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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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

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

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

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

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

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

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

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

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

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 ?

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 ?

Tunisian DREEM: Nursing Students’ Perception of the Learning Environment

Osteogenesis imperfecta

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

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