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Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Diagnostics (Basel, Switzerland), 2022, Vol.12 (7)

2022

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A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma

Genes, 2023, Vol.14 (3)

2023

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Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing

Clinical case reports, 2019, Vol.7 (10), p.1977-1981

2019

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Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

Frontiers in genetics, 2022, Vol.13, p.982508-982508

2022

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Transpedicular Contrast-enhanced CT-guided biopsy of the body and dens of the axis avoiding the trans-oral approach: Technical report and literature review

Journal of craniovertebral junction & spine, 2024, Vol.15 (1), p.118-122

2024

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Pulmonary leiomyosarcoma arising in pulmonary hamartoma: an exceptional occurrence in a rare tumor

Pathologica, 2023, Vol.115 (6), p.325-332

2023

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Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

International journal of molecular sciences, 2022, Vol.23 (24)

2022

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Lasting response after discontinuation of cemiplimab in a patient with locally advanced basal cell carcinoma

Clinical and experimental dermatology, 2021, Vol.46 (8), p.1612-1614

2021

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Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient

Neuromuscular disorders : NMD, 2021, Vol.31 (6), p.532-538

2021

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Disagreement About Surgical Intervention in Trisomy 18

Pediatrics, 2021, Vol.147 (1)

2021

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Real-Time Neuropsychological Testing (RTNT) and Music Listening during Glioblastoma Excision in Awake Surgery: A Case Report

Journal of clinical medicine, 2023, Vol.12 (18)

2023

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Clinical and dermoscopic polymorphisms in agminated Spitz nevi: Ugly presentation but benign behavior

Pediatric dermatology, 2021, Vol.38 (2), p.461-463

2021

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Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Genes, 2021, Vol.12 (12)

2021

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Tom Charbit, Les harkis

Pôle Sud, 2006, Vol.25 (2), p.182-184

Savarese, Éric

2006

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Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection

Therapeutic advances in medical oncology, 2022, Vol.14, p.17588359221138388-17588359221138388

2022

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Neonatal Cerebral Venous Thrombosis following Maternal SARS-CoV-2 Infection in Pregnancy

Neonatology, 2022, Vol.119 (2), p.268-272

2022

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Recurrent Renal Colic in a Patient with Munchausen Syndrome

International journal of environmental research and public health, 2018, Vol.15 (4)

2018

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Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy

International journal of environmental research and public health, 2017, Vol.14 (8)

2017

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An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure

Frontiers in endocrinology, 2018, Vol.9, p.557-557

2018

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Familial polyglucosan body myopathy with unusual phenotype

Neuropathology and applied neurobiology, 2015, Vol.41 (3), p.385-390

2015

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Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

Ophthalmic Genetics, 2014, Vol.35 (3), p.184-186

2014

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What can hide under exophytic verrucous appearance?

Acta dermato-venereologica, 2011, Vol.91 (1), p.100-101

2011

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Implantable cardioverter defibrillator to prevent sudden cardiac death in a patient with systemic sclerosis: A clinical case

Journal of cardiology cases, 2012, Vol.5 (3), p.e166-e170

2012

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Slow-growing melanoma: Report of five cases

Journal of dermatological case reports, 2007, Vol.1 (1), p.1-3

2007

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Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma

Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

Transpedicular Contrast-enhanced CT-guided biopsy of the body and dens of the axis avoiding the trans-oral approach: Technical report and literature review

Pulmonary leiomyosarcoma arising in pulmonary hamartoma: an exceptional occurrence in a rare tumor

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Lasting response after discontinuation of cemiplimab in a patient with locally advanced basal cell carcinoma

Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient

Disagreement About Surgical Intervention in Trisomy 18

Real-Time Neuropsychological Testing (RTNT) and Music Listening during Glioblastoma Excision in Awake Surgery: A Case Report

Clinical and dermoscopic polymorphisms in agminated Spitz nevi: Ugly presentation but benign behavior

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Tom Charbit, Les harkis

Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection

Neonatal Cerebral Venous Thrombosis following Maternal SARS-CoV-2 Infection in Pregnancy

Recurrent Renal Colic in a Patient with Munchausen Syndrome

Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy

An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure

Familial polyglucosan body myopathy with unusual phenotype

Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

What can hide under exophytic verrucous appearance?

Implantable cardioverter defibrillator to prevent sudden cardiac death in a patient with systemic sclerosis: A clinical case

Slow-growing melanoma: Report of five cases

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