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Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

Genetics in medicine, 2021-02, Vol.23 (2), p.421-422

2021

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Molecular Pathways within Autism Spectrum Disorder Endophenotypes

Journal of molecular neuroscience, 2021-07, Vol.71 (7), p.1357-1367

2021

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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BMC pediatrics, 2024-04, Vol.24 (1), p.271-271, Article 271

2024

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A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

BMC medical genomics, 2023-12, Vol.16 (1), p.315-315, Article 315

2023

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H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Genes, 2022-06, Vol.13 (6), p.1019

2022

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190

2021

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Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Genes, 2023-02, Vol.14 (2), p.484

2023

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Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Genes, 2021-09, Vol.12 (10), p.1482

2021

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Neurofibromatosis: New Clinical Challenges in the Era of COVID-19

Biomedicines, 2022-04, Vol.10 (5), p.940

2022

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8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

Genes, 2021-04, Vol.12 (5), p.652

2021

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Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature

Genes, 2022-03, Vol.13 (4), p.581

2022

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Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

Frontiers in immunology, 2018-07, Vol.9, p.1715-1715

2018

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.733-740

2009

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Autoimmune hepatitis in genetic syndromes: A literature review

World journal of hepatology, 2021-10, Vol.13 (10), p.1328-1340

2021

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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

Investigative ophthalmology & visual science, 2018-02, Vol.59 (2), p.843-857

2018

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TU24. SUICIDE RELATED PHENOTYPES IN A BIPOLAR SAMPLE: GENETIC UNDERPINNINGS

European neuropsychopharmacology, 2021-10, Vol.51, p.e106-e107

2021

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CNVs inform the biological network of Autism spectrum disorder

Psychiatry research, 2021-03, Vol.297, p.113729-113729, Article 113729

2021

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Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype

Allergy and asthma proceedings, 2015-01, Vol.36 (1), p.74

2015

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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.345-352

2023

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Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide

The journal of pediatric pharmacology and therapeutics, 2023, Vol.28 (7), p.662-666

2023

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Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

BMJ case reports, 2019-10, Vol.12 (10), p.e230152

2019

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

European journal of human genetics : EJHG, 2024-06

2024

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FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

Pediatric and developmental pathology, 2018-09, Vol.21 (5), p.456-460

2018

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Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

Molecular Pathways within Autism Spectrum Disorder Endophenotypes

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Neurofibromatosis: New Clinical Challenges in the Era of COVID-19

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations

Autoimmune hepatitis in genetic syndromes: A literature review

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

TU24. SUICIDE RELATED PHENOTYPES IN A BIPOLAR SAMPLE: GENETIC UNDERPINNINGS

CNVs inform the biological network of Autism spectrum disorder

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide

Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

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