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American Journal of Medical Genetics. Part A|December 9, 2023
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric networkSarah D Huang, Vaneeta Bamba, Samantha Bothwell, et al.
American Journal of Medical Genetics. Part A|November 21, 2023
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 geneJuliette Quilichini, Sandrine Perol, Laurence Cuisset, et al.
American Journal of Medical Genetics. Part A|November 16, 2023
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyElizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A|November 15, 2023
Ocular manifestations in a cohort of 43 patients with KBG syndromeDrake C Carter, Ola Kierzkowska, Kathleen Sarino, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyriaTommi Salokivi, Riitta Parkkola, Yasmin Rajendran, et al.
American Journal of Medical Genetics. Part A|November 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donorsMatthew T Snyder, Joshua Manor, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|November 7, 2023
Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiencySihem Darouich, Samia Darouich
American Journal of Medical Genetics. Part A|November 8, 2023
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-relatedRosario Ramos-Mejía, Karen E Heath, Silvia Modamio-Høybjør, et al.
American Journal of Medical Genetics. Part A|November 6, 2023
Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectivesAlessia Carrer, Maria Giovanna Romaniello, Maria Letizia Calderara, et al.
American Journal of Medical Genetics. Part A|November 2, 2023
Arterial tortuosity in pediatric Loeys-Dietz syndrome patientsLaia Brunet-Garcia, Pirasuja Prabaharan, Luc Bruyndonckx, et al.
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