Disease: Barakat syndrome
- A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
- A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
- A Novel <em>ANO1</em> Gene Variant is Associated with Intestinal Dysmotility Syndrome Masquerading as Hirschsprung Disease: A Case Report
- A novel <em>GATA3</em> frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
- A Unique Genomic Variant of HDR Syndrome in Newborn
- Association between COVID-19 symptoms, COVID-19 vaccine, and somatization among a sample of the Lebanese adults
- Barakat syndrome
- Barakat syndrome diagnosed decades after initial presentation
- Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada
- Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
- Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome
- Comparison of dietary intake measured by a web-based FFQ and repeated 24-hour dietary recalls: the Hordaland Health Study
- De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
- Developing an Artificial Intelligence-Based Representation of a Virtual Patient Model for Real-Time Diagnosis of Acute Respiratory Distress Syndrome
- Development and validation of a quantitative food frequency questionnaire to assess free sugar intake among Sri Lankan preschool children
- Dimerization choice and alternative functions of ZBTB transcription factors
- Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response
- HDR syndrome in a Colombian woman with a genital tract malformation: First case report in Latin America
- HDR syndrome, detected in the neonatal period by newborn hearing screening
- Hyperkalemia Unveiled: A Case of Barakat Syndrome
- Hypocalcemia not related to chronic kidney disease: Answers
- Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a <em>GATA3</em> splice site mutation leading to the activation of a cryptic splice site
- Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
- Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia
- Impact of COVID-19 and vaccination on first and second trimester screening results
- Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome
- Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria
- Paracetamol (Acetaminophen)-associated SJS, TEN, AGEP, and DRESS Syndromes- A Narrative Review
- Primary Hypoparathyroidism Presenting as Idiopathic Intracranial Hypertension in a Patient With Barakat Syndrome
- Pseudotumor Cerebri Due to a Rare Cause of Primary Hypoparathyroidism: Barakat Syndrome
- Psychometric properties of the arabic version of the maslach burnout inventory-human services survey (MBI-HSS) among lebanese dentists
- Relative Validity and Reproducibility of a Web-Based Semi-Quantitative Food Frequency Questionnaire in the Danish Diet, Cancer, and Health-Next Generations MAX Study
- YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review