Search Result "monogenic disorders"


Review Article

Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes

Journal: Current Genomics
Volume: 23 Issue: 3 Year: 2022 Page: 147-162
Author(s): David Albuquerque do Santos,Carola Guzmán Luján,Otilia Zomeño Alcalá,Carlos Sánchez Juan

Molecular Diagnostics and Immunological Markers of Neurodegenerative Disorders

Ebook: Neurodegenerative Diseases: Multifactorial Degenerative Processes, Biomarkers and Therapeutic Approaches (First Edition)

Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815040913122010011

Updates on Childhood-Onset Systemic Lupus Erythematosus

Ebook: Common Pediatric Diseases: an Updated Review

Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815039658122010014
Review Article

An Update on Non-Invasive Approaches for Genetic Testing of the PreimplantationEmbryo

Journal: Current Genomics
Volume: 23 Issue: 5 Year: 2022 Page: 337-352
Author(s):

Review Article

Familial Hypercholesterolemia: Update and Review

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 2 Year: 2022 Page: 198-211
Author(s): Oscar Francisco Chacón-Camacho,Claudia Fabiola Méndez-Catalá,Juan Carlos Zenteno

Primary Microcephaly and Schizophrenia: Genetics, Diagnostics and Current Therapeutics

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010020
Case Report

Case Report of a Novel NFkB Mutation in a Lymphoproliferative DisorderPatient

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 1 Year: 2022 Page: 1040-1045
Author(s): Raul Jimenez Heredia,Bibi Shahin Shamsian

Intellectual Disabilities

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010019

Preimplantation, Prenatal, and Postnatal Diagnosis

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010006
Review Article

Gene Therapy as the New Frontier for Sickle Cell Disease

Journal: Current Medicinal Chemistry
Volume: 29 Issue: 3 Year: 2022 Page: 453-466
Author(s): Himanshu Garg,Kristina J. Tatiossian,Karsten Peppel,Gregory J. Kato,Eva Herzog

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