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American Journal of Medical Genetics. Part A|January 17, 2025
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic CardiomyopathySilvia Kalantari, Daniele Veraldi, Davide Politano, et al.
American Journal of Medical Genetics. Part A|December 31, 2024
Specialty Care Oases: Utilizing Geographic Information Systems to Evaluate Specialty Care Access for Individuals With Down SyndromeKayla Jensen, Paul Llamas, Jace Howard, et al.
American Journal of Medical Genetics. Part A|December 2, 2024
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated FamiliesTuğba Daşar, Gizem Ürel Demir, Gözde İmren, et al.
American Journal of Medical Genetics. Part A|December 2, 2024
Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic AnemiaMin Gao, Yunjia Chen, Pongtawat Lertwilaiwittaya, et al.
American Journal of Medical Genetics. Part A|December 5, 2024
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical PhenotypeSaima Kayani, Victor Daescu, Hamza Dahshi, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature ReviewAlessandro De Falco, Elia Marco Paolo Minale, Camilla Meossi, et al.
American Journal of Medical Genetics. Part A|November 25, 2024
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic CounselingC Racine, P Callier, R Touraine, et al.
American Journal of Medical Genetics. Part A|November 23, 2024
An Extended Phenotype of PPP1R13L Cardiocutaneous SyndromeAlicia Coudert, Julien Thevenon, Quentin Testard, et al.
American Journal of Medical Genetics. Part A|December 20, 2024
Prenatal Diagnosis of Proteus Syndrome: About a CaseLuana Giovannangeli, Virginie Magry, Florence Jobic, et al.
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