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Last Updated: 10/31/2025
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Found 133 publications
A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.
Journal: American journal of medical genetics. Part A
Published: January 20, 2025
Aphallia in a patient with 9q34 duplication syndrome: a case report.
Journal: BMC urology
Published: December 02, 2024
De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.
Journal: Journal of medical case reports
Published: September 05, 2022
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Journal: Molecular genetics & genomic medicine
Published: June 17, 2022
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.
Journal: Molecular genetics & genomic medicine
Published: November 30, 2021
A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.
Journal: Genes
Published: November 04, 2021
Floating-Harbor Syndrome: A Rare Case Report.
Journal: International journal of clinical pediatric dentistry
Published: February 24, 2021
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Journal: American journal of medical genetics. Part A
Published: December 06, 2020
Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: October 16, 2020
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.
Journal: Genes
Published: April 14, 2020
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).
Journal: American journal of medical genetics. Part A
Published: January 08, 2020
Last Updated: 10/31/2025