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Last Updated: 10/31/2025

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Found 149 publications

Isolated Hemihyperplasia in Adolescence: A Case Report.

Isolated Hemihyperplasia in Adolescence: A Case Report.

Journal: Cureus
Published: August 15, 2025

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 04, 2025

Upper Extremity Manifestations of Beckwith-Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years.

Upper Extremity Manifestations of Beckwith-Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years.

Journal: Journal of hand surgery global online
Published: February 21, 2025

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

Journal: Oman medical journal
Published: July 25, 2024

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

Journal: The Journal of pediatrics
Published: April 14, 2024

Overcoming Challenges in Hemihyperplasia Through Surgical Innovation and Genetic Diagnosis: A Case Report.

Overcoming Challenges in Hemihyperplasia Through Surgical Innovation and Genetic Diagnosis: A Case Report.

Journal: Cureus
Published: January 09, 2024

Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia.

Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia.

Journal: JPRAS open
Published: October 17, 2023

A five-day-old child with lipid hemihypertrophy: A case report.

A five-day-old child with lipid hemihypertrophy: A case report.

Journal: Clinical case reports
Published: October 08, 2023

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Journal: American journal of medical genetics. Part A
Published: September 29, 2023

Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.

Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.

Journal: International journal of molecular sciences
Published: August 01, 2023

Congenital Hemihyperplasia in an Infant with Ipsilateral Torticollis: A Case Report.

Congenital Hemihyperplasia in an Infant with Ipsilateral Torticollis: A Case Report.

Journal: Children (Basel, Switzerland)
Published: July 13, 2023

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.

Journal: Orphanet journal of rare diseases
Published: March 09, 2023
Showing 1-12 of 149

Last Updated: 10/31/2025