CFC syndrome: report of familial cases

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2019

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

Neuromuscular disorders : NMD·2018

Clinical impact of the new SIAPEC-IAP classification on the indeterminate category of thyroid nodules.

Journal of endocrinological investigation·2018

Hypothyroidism and hyponatremia: data from a series of patients with iatrogenic acute hypothyroidism undergoing radioactive iodine therapy after total thyroidectomy for thyroid cancer.

Journal of endocrinological investigation·2016

Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

Hormone research in paediatrics·2014

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Double-stranded DNA donors and CRISPR-Cas9 for universal correction of mutations causing cystic fibrosis in human airway cells.

Molecular therapy. Nucleic acids·2026

Beyond Individual Risk: A Qualitative Exploration of Intersectional HIV Vulnerabilities Among Black Cisgender Women in Baltimore.

Archives of sexual behavior·2026

TPx Protein of Cysticercus cellulosae Regulates Macrophage M2 Polarization via the cGMP-PKG Signaling Pathway.

Pathogens (Basel, Switzerland)·2026

Gender-Patterns in Cyberbullying Involvement Categories: Insights into the Cyberbully/Victims Subgroup.

Behavioral sciences (Basel, Switzerland)·2026

Teachers' Responses to Cyberbullying: Psychometric Validation and Latent Profile Analysis Among Chinese Teachers.

Behavioral sciences (Basel, Switzerland)·2026

Validation of the Clinical Assessment of Prosocial Emotions (CAPE) and Subtype Differentiation of Callous-Unemotional Traits in Children and Adolescents: A Study Protocol.

Behavioral sciences (Basel, Switzerland)·2026

Related Experiment Videos

CFC syndrome: report of familial cases

Related Concept Videos

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.

Clinical impact of the new SIAPEC-IAP classification on the indeterminate category of thyroid nodules.

Hypothyroidism and hyponatremia: data from a series of patients with iatrogenic acute hypothyroidism undergoing radioactive iodine therapy after total thyroidectomy for thyroid cancer.

Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Double-stranded DNA donors and CRISPR-Cas9 for universal correction of mutations causing cystic fibrosis in human airway cells.

Beyond Individual Risk: A Qualitative Exploration of Intersectional HIV Vulnerabilities Among Black Cisgender Women in Baltimore.

TPx Protein of Cysticercus cellulosae Regulates Macrophage M2 Polarization via the cGMP-PKG Signaling Pathway.

Gender-Patterns in Cyberbullying Involvement Categories: Insights into the Cyberbully/Victims Subgroup.

Teachers' Responses to Cyberbullying: Psychometric Validation and Latent Profile Analysis Among Chinese Teachers.

Validation of the Clinical Assessment of Prosocial Emotions (CAPE) and Subtype Differentiation of Callous-Unemotional Traits in Children and Adolescents: A Study Protocol.

Related Experiment Videos

CFC syndrome: report of familial cases

Related Concept Videos

Related Articles