Ana Grangeia

Porto, Portugal

Last Updated: 09/26/2026

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Found 38 publications

Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel DSP variant.

Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel DSP variant.

Journal: Cardiology in the young
Published: July 27, 2026

Molecular Diagnosis in Patients With Tuberous Sclerosis Complex: A Deep Sequencing Approach in Clinical Practice.

Molecular Diagnosis in Patients With Tuberous Sclerosis Complex: A Deep Sequencing Approach in Clinical Practice.

Journal: Cureus
Published: June 02, 2026

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.

Journal: Neuro-ophthalmology (Aeolus Press)
Published: March 18, 2026

Central congenital hypothyroidism caused by TSHB gene mutation: a case report.

Central congenital hypothyroidism caused by TSHB gene mutation: a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 31, 2026

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

A Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.

Journal: Cureus
Published: January 05, 2026

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant.

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant.

Journal: Parkinsonism & related disorders
Published: July 10, 2025

Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review.

Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review.

Journal: Clinical dysmorphology
Published: March 12, 2025

A Newborn Presenting with Alternating Bradycardia and Tachycardia.

A Newborn Presenting with Alternating Bradycardia and Tachycardia.

Journal: NeoReviews
Published: September 14, 2024

Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.

Journal: Cerebellum (London, England)
Published: August 01, 2024

A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported.

A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported.

Journal: Clinical dysmorphology
Published: May 31, 2024

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.

Journal: Cureus
Published: January 20, 2024

A Hypertonic Term Newborn with Absent Primitive Reflexes.

A Hypertonic Term Newborn with Absent Primitive Reflexes.

Journal: NeoReviews
Published: December 15, 2023
Showing 1-12 of 38

Last Updated: 09/26/2026