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Last Updated: 10/31/2025
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Found 29 publications
Analysis of genetic variant in a child with Pitt-Hopkins syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 23, 2023
A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.
Journal: Neurology India
Published: August 28, 2023
A novel syndrome associated with prenatal fentanyl exposure.
Journal: Genetics in medicine open
Published: June 26, 2023
Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report.
Journal: World journal of clinical cases
Published: March 14, 2023
Mucopolysaccharidosis Type VI with Recurrent Chest Infection.
Journal: Cureus
Published: February 20, 2023
Multiple copy number variation in a patient with Kleefstra syndrome.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: December 08, 2022
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Journal: American journal of medical genetics. Part A
Published: April 22, 2020
Psychomotor retardation with neutropenia for more than one year in a toddler
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: July 05, 2018
NIPBL gene mutations in two children with Cornelia de Lange syndrome
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: May 17, 2018
Nine year old boy with chromosome 1q23.3-q25.1 deletion.
Journal: American journal of medical genetics. Part A
Published: December 28, 2015
Last Updated: 10/31/2025